View 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
Associated with diseases ACG-2, ANFH, EDMMD, ID, Kniest, LCPD, OSCDP, OSMED, PLSDT, SED, SEDC, SEDN, SEDT, SEMD, STL-1, dysplasia, Czech, dysspondylo-enchondroma
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Mouna Barat-Houari and Isabelle Touitou
Total number of public variants reported 779
Unique public DNA variants reported 456
Individuals with public variants 1766
Hidden variants 0
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 December 06, 2016
Version COL2A1:161206

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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))
SEMD (dysplasia, spondyloepimetaphyseal, Strudwick type (SEMD))
STL-1 (Stickler syndrome, type I (STL-1))
dysplasia, Czech
GeneCards COL2A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00005457 12 transcript variant 1 NM_001844.4 NP_001835.3 779

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