LOCUS       NM_001844               5059 bp    mRNA    linear   PRI 29-JAN-2025
DEFINITION  Homo sapiens collagen type II alpha 1 chain (COL2A1), transcript
            variant 1, mRNA.
ACCESSION   NM_001844
VERSION     NM_001844.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5059)
  AUTHORS   Viakhireva,I., Bychkov,I., Markova,T., Shatokhina,O.,
            Karandasheva,K., Udalova,V., Bekhtereva,Y., Ryzhkova,O. and
            Skoblov,M.
  TITLE     The molecular complexity of COL2A1 splicing variants and their
            significance in phenotype severity
  JOURNAL   Bone 181, 117013 (2024)
   PUBMED   38246255
  REMARK    GeneRIF: The molecular complexity of COL2A1 splicing variants and
            their significance in phenotype severity.
REFERENCE   2  (bases 1 to 5059)
  AUTHORS   Ma,J., Zhang,Y., Ding,X., Liang,Z., Yang,C., Deng,Z., He,H.,
            Guan,Z., Zeng,C., Lin,Y. and Luo,X.
  TITLE     Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked
            Hypophosphatemia in a Three-Generation Chinese Family
  JOURNAL   Calcif Tissue Int 113 (3), 266-275 (2023)
   PUBMED   37278761
  REMARK    GeneRIF: Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked
            Hypophosphatemia in a Three-Generation Chinese Family.
REFERENCE   3  (bases 1 to 5059)
  AUTHORS   Jacobson,A., Besirli,C.G. and Bohnsack,B.L.
  TITLE     Characteristics of a Three-Generation Family with Stickler Syndrome
            Type I Carrying Two Different COL2A1 Mutations
  JOURNAL   Genes (Basel) 14 (4), 847 (2023)
   PUBMED   37107605
  REMARK    GeneRIF: Characteristics of a Three-Generation Family with Stickler
            Syndrome Type I Carrying Two Different COL2A1 Mutations.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5059)
  AUTHORS   Tuysuz,B., Kasap,B., Saritas,M., Alkaya,D.U., Bozlak,S., Kiykim,A.,
            Durmaz,A., Yildirim,T., Akpinar,E., Apak,H. and Vural,M.
  TITLE     Natural history and genetic spectrum of the Turkish metaphyseal
            dysplasia cohort, including rare types caused by biallelic COL10A1,
            COL2A1, and LBR variants
  JOURNAL   Bone 167, 116614 (2023)
   PUBMED   36400164
  REMARK    GeneRIF: Natural history and genetic spectrum of the Turkish
            metaphyseal dysplasia cohort, including rare types caused by
            biallelic COL10A1, COL2A1, and LBR variants.
REFERENCE   5  (bases 1 to 5059)
  AUTHORS   England,J., McFarquhar,A. and Campeau,P.M.
  TITLE     Spondylometaphyseal Dysplasia, Corner Fracture Type
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32200603
REFERENCE   6  (bases 1 to 5059)
  AUTHORS   Gregersen,P.A. and Savarirayan,R.
  TITLE     Type II Collagen Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31021589
REFERENCE   7  (bases 1 to 5059)
  AUTHORS   Mortier,G.
  TITLE     Stickler Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301479
REFERENCE   8  (bases 1 to 5059)
  AUTHORS   Bogaert,R., Tiller,G.E., Weis,M.A., Gruber,H.E., Rimoin,D.L.,
            Cohn,D.H. and Eyre,D.R.
  TITLE     An amino acid substitution (Gly853-->Glu) in the collagen alpha
            1(II) chain produces hypochondrogenesis
  JOURNAL   J Biol Chem 267 (31), 22522-22526 (1992)
   PUBMED   1429602
REFERENCE   9  (bases 1 to 5059)
  AUTHORS   Kirsch,T. and Pfaffle,M.
  TITLE     Selective binding of anchorin CII (annexin V) to type II and X
            collagen and to chondrocalcin (C-propeptide of type II collagen).
            Implications for anchoring function between matrix vesicles and
            matrix proteins
  JOURNAL   FEBS Lett 310 (2), 143-147 (1992)
   PUBMED   1397263
REFERENCE   10 (bases 1 to 5059)
  AUTHORS   Horton,W.A., Machado,M.A., Ellard,J., Campbell,D., Bartley,J.,
            Ramirez,F., Vitale,E. and Lee,B.
  TITLE     Characterization of a type II collagen gene (COL2A1) mutation
            identified in cultured chondrocytes from human hypochondrogenesis
  JOURNAL   Proc Natl Acad Sci U S A 89 (10), 4583-4587 (1992)
   PUBMED   1374906
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004801.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001844.4.
            
            Summary: This gene encodes the alpha-1 chain of type II collagen, a
            fibrillar collagen found in cartilage and the vitreous humor of the
            eye. Mutations in this gene are associated with achondrogenesis,
            chondrodysplasia, early onset familial osteoarthritis, SED
            congenita, Langer-Saldino achondrogenesis, Kniest dysplasia,
            Stickler syndrome type I, and spondyloepimetaphyseal dysplasia
            Strudwick type. In addition, defects in processing chondrocalcin, a
            calcium binding protein that is the C-propeptide of this collagen
            molecule, are also associated with chondrodysplasia. There are two
            transcripts identified for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC116449.1, SRR14038195.2146254.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380518.8/ ENSP00000369889.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-240               AC004801.2         134705-134944
            241-447             AC004801.2         139056-139262
            448-464             AC004801.2         140750-140766
            465-497             AC004801.2         140980-141012
            498-530             AC004801.2         141117-141149
            531-584             AC004801.2         141257-141310
            585-686             AC004801.2         141474-141575
            687-764             AC004801.2         142556-142633
            765-809             AC004801.2         143262-143306
            810-863             AC004801.2         143418-143471
            864-917             AC004801.2         143873-143926
            918-971             AC004801.2         144704-144757
            972-1025            AC004801.2         145134-145187
            1026-1079           AC004801.2         145319-145372
            1080-1124           AC004801.2         145679-145723
            1125-1178           AC004801.2         146250-146303
            1179-1223           AC004801.2         149376-149420
            1224-1277           AC004801.2         149900-149953
            1278-1376           AC004801.2         151472-151570
            1377-1421           AC004801.2         151868-151912
            1422-1520           AC004801.2         152005-152103
            1521-1574           AC004801.2         152293-152346
            1575-1682           AC004801.2         152738-152845
            1683-1736           AC004801.2         153216-153269
            1737-1835           AC004801.2         153355-153453
            1836-1889           AC004801.2         153594-153647
            1890-1988           AC004801.2         154088-154186
            1989-2042           AC004801.2         154582-154635
            2043-2096           AC004801.2         155041-155094
            2097-2150           AC004801.2         155445-155498
            2151-2204           AC004801.2         155743-155796
            2205-2249           AC004801.2         156044-156088
            2250-2348           AC004801.2         156235-156333
            2349-2456           AC004801.2         156572-156679
            2457-2510           AC004801.2         157021-157074
            2511-2564           AC004801.2         157352-157405
            2565-2618           AC004801.2         157785-157838
            2619-2672           AC004801.2         158213-158266
            2673-2780           AC004801.2         158520-158627
            2781-2834           AC004801.2         159119-159172
            2835-2888           AC004801.2         159617-159670
            2889-3050           AC004801.2         160423-160584
            3051-3158           AC004801.2         160783-160890
            3159-3266           AC004801.2         161064-161171
            3267-3320           AC004801.2         161528-161581
            3321-3428           AC004801.2         161754-161861
            3429-3482           AC004801.2         162026-162079
            3483-3590           AC004801.2         162262-162369
            3591-3644           AC004801.2         162614-162667
            3645-3752           AC004801.2         163111-163218
            3753-4041           AC004801.2         163576-163864
            4042-4229           AC004801.2         164319-164506
            4230-4472           AC004801.2         164850-165092
            4473-5059           AC004801.2         165628-166214
FEATURES             Location/Qualifiers
     source          1..5059
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     gene            1..5059
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /note="collagen type II alpha 1 chain"
                     /db_xref="GeneID:1280"
                     /db_xref="HGNC:HGNC:2200"
                     /db_xref="MIM:120140"
     exon            1..240
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..4619
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; collagen II, alpha-1 polypeptide; cartilage
                     collagen; chondrocalcin; collagen alpha-1(II) chain;
                     alpha-1 type II collagen; arthroophthalmopathy,
                     progressive (Stickler syndrome); collagen, type II, alpha
                     1"
                     /codon_start=1
                     /product="collagen alpha-1(II) chain isoform 1 precursor"
                     /protein_id="NP_001835.3"
                     /db_xref="CCDS:CCDS41778.1"
                     /db_xref="GeneID:1280"
                     /db_xref="HGNC:HGNC:2200"
                     /db_xref="MIM:120140"
                     /translation="MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDK
                     DVWKPEPCRICVCDTGTVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGP
                     KGQKGEPGDIKDIVGPKGPPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGN
                     PGPPGPPGPPGPPGLGGNFAAQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAP
                     GPQGFQGNPGEPGEPGVSGPMGPRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARG
                     FPGTPGLPGVKGHRGYPGLDGAKGEAGAPGVKGESGSPGENGSPGPMGPRGLPGERGR
                     TGPAGAAGARGNDGQPGPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPR
                     GEPGTPGSPGPAGASGNPGTDGIPGAKGSAGAPGIAGAPGFPGPRGPPGPQGATGPLG
                     PKGQTGEPGIAGFKGEQGPKGEPGPAGPQGAPGPAGEEGKRGARGEPGGVGPIGPPGE
                     RGAPGNRGFPGQDGLAGPKGAPGERGPSGLAGPKGANGDPGRPGEPGLPGARGLTGRP
                     GDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPGVMGFPGPKGANGEPGKAGEKGLPG
                     APGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGGKPGD
                     QGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPP
                     GAQGPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPGKDGGRGLTGPIGPPGPAG
                     ANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPGADGQPGAKGEQGEAGQ
                     KGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGSNGNP
                     GPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPGDDGPSGAEGPPG
                     PQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPGPVGPPGLTGP
                     AGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDR
                     GEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQGLPGPPG
                     PSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAGPPGN
                     PGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLKSL
                     NNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETG
                     ETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFL
                     RLLSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKD
                     GCTKHTGKWGKTVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL"
     exon            241..447
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            448..464
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            465..497
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            498..530
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            531..584
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            585..686
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            687..764
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            765..809
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            810..863
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            864..917
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            918..971
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            972..1025
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1079
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1124
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1178
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1223
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1277
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1376
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1421
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1422..1520
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1521..1574
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1682
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1683..1736
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1737..1835
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1836..1889
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1890..1988
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            1989..2042
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2043..2096
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2097..2150
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2151..2204
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2205..2249
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2250..2348
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2349..2456
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2457..2510
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2511..2564
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2565..2618
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2619..2672
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2673..2780
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2781..2834
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2835..2888
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            2889..3050
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            3051..3158
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            3159..3266
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            3267..3320
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            3321..3428
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            3429..3482
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            3483..3590
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            3591..3644
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            3645..3752
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            3753..4041
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            4042..4229
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            4230..4472
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     exon            4473..5059
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5037..5042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /note="hexamer: AATGAA"
     polyA_site      5059
                     /gene="COL2A1"
                     /gene_synonym="ACG2; ANFH; ANFH1; AOM; COL11A3; EDMMD;
                     LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1;
                     VPED"
                     /note="major polyA site"
ORIGIN      
        1 gcagagcgct gctgggctgc cgggtctccc gcttccccct cctgctccaa gggcctcctg
       61 catgagggcg cggtagagac ccggacccgc gccgtgctcc tgccgtttcg ctgcgctccg
      121 cccgggcccg gctcagccag gccccgcggt gagccatgat tcgcctcggg gctccccaga
      181 cgctggtgct gctgacgctg ctcgtcgccg ctgtccttcg gtgtcagggc caggatgtcc
      241 aggaggctgg cagctgtgtg caggatgggc agaggtataa tgataaggat gtgtggaagc
      301 cggagccctg ccggatctgt gtctgtgaca ctgggactgt cctctgcgac gacataatct
      361 gtgaagacgt gaaagactgc ctcagccctg agatcccctt cggagagtgc tgccccatct
      421 gcccaactga cctcgccact gccagtgggc aaccaggacc aaagggacag aaaggagaac
      481 ctggagacat caaggatatt gtaggaccca aaggacctcc tgggcctcag ggacctgcag
      541 gggaacaagg acccagaggg gatcgtggtg acaaaggtga aaaaggtgcc cctggacctc
      601 gtggcagaga tggagaacct gggacccctg gaaatcctgg cccccctggt cctcccggcc
      661 cccctggtcc ccctggtctt ggtggaaact ttgctgccca gatggctgga ggatttgatg
      721 aaaaggctgg tggcgcccag ttgggagtaa tgcaaggacc aatgggcccc atgggacctc
      781 gaggacctcc aggccctgca ggtgctcctg ggcctcaagg atttcaaggc aatcctggtg
      841 aacctggtga acctggtgtc tctggtccca tgggtccccg tggtcctcct ggtccccctg
      901 gaaagcctgg tgatgatggt gaagctggaa aacctggaaa agctggtgaa aggggtccgc
      961 ctggtcctca gggtgctcgt ggtttcccag gaaccccagg ccttcctggt gtcaaaggtc
     1021 acagaggtta tccaggcctg gacggtgcta agggagaggc gggtgctcct ggtgtgaagg
     1081 gtgagagtgg ttccccgggt gagaacggat ctccgggccc aatgggtcct cgtggcctgc
     1141 ctggtgaaag aggacggact ggccctgctg gcgctgcggg tgcccgaggc aacgatggtc
     1201 agccaggccc cgcagggcct ccgggtcctg tcggtcctgc tggtggtcct ggcttccctg
     1261 gtgctcctgg agccaagggt gaagccggcc ccactggtgc ccgtggtcct gaaggtgctc
     1321 aaggtcctcg cggtgaacct ggtactcctg ggtcccctgg gcctgctggt gcctccggta
     1381 accctggaac agatggaatt cctggagcca aaggatctgc tggtgctcct ggcattgctg
     1441 gtgctcctgg cttccctggg ccacggggcc ctcctggccc tcaaggtgca actggtcctc
     1501 tgggcccgaa aggtcagacg ggtgaacctg gtattgctgg cttcaaaggt gaacaaggcc
     1561 ccaagggaga acctggccct gctggccccc agggagcccc tggacccgct ggtgaagaag
     1621 gcaagagagg tgcccgtgga gagcctggtg gcgttgggcc catcggtccc cctggagaaa
     1681 gaggtgctcc cggcaaccgc ggtttcccag gtcaagatgg tctggcaggt cccaagggag
     1741 cccctggaga gcgagggccc agtggtcttg ctggccccaa gggagccaac ggtgaccctg
     1801 gccgtcctgg agaacctggc cttcctggag cccggggtct cactggccgc cctggtgatg
     1861 ctggtcctca aggcaaagtt ggcccttctg gagcccctgg tgaagatggt cgtcctggac
     1921 ctccaggtcc tcagggggct cgtgggcagc ctggtgtcat gggtttccct ggccccaaag
     1981 gtgccaacgg tgagcctggc aaagctggtg agaagggact gcctggtgct cctggtctga
     2041 ggggtcttcc tggcaaagat ggtgagacag gtgctgcagg accccctggc cctgctggac
     2101 ctgctggtga acgaggcgag cagggtgctc ctgggccatc tgggttccag ggacttcctg
     2161 gccctcctgg tcccccaggt gaaggtggaa aaccaggtga ccagggtgtt cccggtgaag
     2221 ctggagcccc tggcctcgtg ggtcccaggg gtgaacgagg tttcccaggt gaacgtggct
     2281 ctcccggtgc ccagggcctc cagggtcccc gtggcctccc cggcactcct ggcactgatg
     2341 gtcccaaagg tgcatctggc ccagcaggcc cccctggggc tcagggccct ccaggtcttc
     2401 agggaatgcc tggcgagagg ggagcagctg gtatcgctgg gcccaaaggc gacaggggtg
     2461 acgttggtga gaaaggccct gagggagccc ctggaaagga tggtggacga ggcctgacag
     2521 gtcccattgg cccccctggc ccagctggtg ctaatggcga gaagggagaa gttggacctc
     2581 ctggtcctgc aggaagtgct ggtgctcgtg gcgctccggg tgaacgtgga gagactgggc
     2641 cccccggacc agcgggattt gctgggcctc ctggtgctga tggccagcct ggggccaagg
     2701 gtgagcaagg agaggccggc cagaaaggcg atgctggtgc ccctggtcct cagggcccct
     2761 ctggagcacc tgggcctcag ggtcctactg gagtgactgg tcctaaagga gcccgaggtg
     2821 cccaaggccc cccgggagcc actggattcc ctggagctgc tggccgcgtt ggacccccag
     2881 gctccaatgg caaccctgga ccccctggtc cccctggtcc ttctggaaaa gatggtccca
     2941 aaggtgctcg aggagacagc ggcccccctg gccgagctgg tgaacccggc ctccaaggtc
     3001 ctgctggacc ccctggcgag aagggagagc ctggagatga cggtccctct ggtgccgaag
     3061 gtccaccagg tccccagggt ctggctggtc agagaggcat cgtcggtctg cctgggcaac
     3121 gtggtgagag aggattccct ggcttgcctg gcccgtcggg tgagcccggc aagcagggtg
     3181 ctcctggagc atctggagac agaggtcctc ctggccccgt gggtcctcct ggcctgacgg
     3241 gtcctgcagg tgaacctgga cgagagggaa gccccggtgc tgatggcccc cctggcagag
     3301 atggcgctgc tggagtcaag ggtgatcgtg gtgagactgg tgctgtggga gctcctggag
     3361 cccctgggcc ccctggctcc cctggccccg ctggtccaac tggcaagcaa ggagacagag
     3421 gagaagctgg tgcacaaggc cccatgggac cctcaggacc agctggagcc cggggaatcc
     3481 agggtcctca aggccccaga ggtgacaaag gagaggctgg agagcctggc gagagaggcc
     3541 tgaagggaca ccgtggcttc actggtctgc agggtctgcc cggccctcct ggtccttctg
     3601 gagaccaagg tgcttctggt cctgctggtc cttctggccc tagaggtcct cctggccccg
     3661 tcggtccctc tggcaaagat ggtgctaatg gaatccctgg ccccattggg cctcctggtc
     3721 cccgtggacg atcaggcgaa accggccctg ctggtcctcc tggaaatcct ggaccccctg
     3781 gtcctccagg tccccctggc cctggcatcg acatgtccgc ctttgctggc ttaggcccga
     3841 gagagaaggg ccccgacccc ctgcagtaca tgcgggccga ccaggcagcc ggtggcctga
     3901 gacagcatga cgccgaggtg gatgccacac tcaagtccct caacaaccag attgagagca
     3961 tccgcagccc cgagggctcc cgcaagaacc ctgctcgcac ctgcagagac ctgaaactct
     4021 gccaccctga gtggaagagt ggagactact ggattgaccc caaccaaggc tgcaccttgg
     4081 acgccatgaa ggttttctgc aacatggaga ctggcgagac ttgcgtctac cccaatccag
     4141 caaacgttcc caagaagaac tggtggagca gcaagagcaa ggagaagaaa cacatctggt
     4201 ttggagaaac catcaatggt ggcttccatt tcagctatgg agatgacaat ctggctccca
     4261 acactgccaa cgtccagatg accttcctac gcctgctgtc cacggaaggc tcccagaaca
     4321 tcacctacca ctgcaagaac agcattgcct atctggacga agcagctggc aacctcaaga
     4381 aggccctgct catccagggc tccaatgacg tggagatccg ggcagagggc aatagcaggt
     4441 tcacgtacac tgccctgaag gatggctgca cgaaacatac cggtaagtgg ggcaagactg
     4501 ttatcgagta ccggtcacag aagacctcac gcctccccat cattgacatt gcacccatgg
     4561 acataggagg gcccgagcag gaattcggtg tggacatagg gccggtctgc ttcttgtaaa
     4621 aacctgaacc cagaaacaac acaatccgtt gcaaacccaa aggacccaag tactttccaa
     4681 tctcagtcac tctaggactc tgcactgaat ggctgacctg acctgatgtc cattcatccc
     4741 accctctcac agttcggact tttctcccct ctctttctaa gagacctgaa ctgggcagac
     4801 tgcaaaataa aatctcggtg ttctatttat ttattgtctt cctgtaagac cttcgggtca
     4861 aggcagaggc aggaaactaa ctggtgtgag tcaaatgccc cctgagtgac tgcccccagc
     4921 ccaggccaga agacctccct tcaggtgccg ggcgcaggaa ctgtgtgtgt cctacacaat
     4981 ggtgctattc tgtgtcaaac acctctgtat tttttaaaac atcaattgat attaaaaatg
     5041 aaaagattat tggaaagta
//
