The COL2A1 gene homepage

General information
Gene symbol COL2A1
Gene name collagen, type II, alpha 1
Chromosome 12
Chromosomal band q12-q13.2
Imprinted Unknown
Genomic reference NG_008072.1
Transcript reference NM_001844.4
Exon/intron information NM_001844.4 exon/intron table
Associated with diseases ACG, ACG-2, ANFH, EDMMD, ID, Kniest, LCPD, OSCDP, OSMED, PLSDT, SED, SEDC, SEDN, SEDT, SEMDSTWK, SPDA, STL-1, dysplasia, Czech, dysspondylo-enchondromatose, Stickler sydrome, type I, nonsyndromic ocular, vitreoretinopathy, with phalangeal epiphyseal dysplasia
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Mouna Barat-Houari and Isabelle Touitou
Total number of public variants reported 1196
Unique public DNA variants reported 694
Individuals with public variants 2137
Hidden variants 20
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated March 23, 2021
Version COL2A1:210323

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001844.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL Orphanet
HGNC 2200
Entrez Gene 1280
PubMed articles COL2A1
OMIM - Gene 120140
OMIM - Diseases ACG-2 (achondrogenesis, type II (hypochondrogenesis, ACG-2))
ANFH (necrosis, avascular, femoral head (ANFH))
EDMMD (dysplasia, epiphyseal, multiple, with myopia and deafness (EDMMD))
Kniest (dysplasia, Kniest)
LCPD (Legg-Calve-Perthes disease (LCPD))
OSCDP (osteoarthritis, with mild chondrodysplasia (OSCDP))
OSMED (dysplasia, otospondylomegaepiphyseal (OSMED))
PLSDT (dysplasia, skeletal, platyspondylic, Torrance type (PLSDT))
SED (dysplasia, spondyloperipheral (SED))
SEDC (dysplasia, spondyloepiphyseal, congenita (SEDC))
SEMDSTWK (dysplasia, spondyloepimetaphyseal, Strudwick type (SEMDSTWK))
STL-1 (Stickler syndrome, type I (STL-1))
dysplasia, Czech
Stickler sydrome, type I, nonsyndromic ocular
GeneCards COL2A1
Orphanet COL2A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00005457 12 transcript variant 1 NM_001844.4 NP_001835.3 1196

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