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Symbol report for COL2A1

Stable symbol

HGNC data for COL2A1

Approved symbol
COL2A1
Approved name

collagen type II alpha 1 chain

Locus type
gene with protein product
HGNC ID
HGNC:2200
Symbol status
Approved
Previous symbols
SEDC
AOM
Previous names
collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
arthroophthalmopathy, progressive (Stickler syndrome)
collagen, type II, alpha 1
collagen type II alpha 1
Alias symbols
STL1
Chromosomal location
12q13.11
Gene groups
Gene resources for COL2A1
Ensembl
ENSG00000139219 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
1280 Curated
UCSC
uc001rqu.4
Alliance of Genome Resources
HGNC:2200
Nucleotide resources for COL2A1
MANE Select
NM_001844.5
ENST00000380518.8
INSDC
X16468 Curated
ENAGenBankDDBJ
RefSeq
NM_001844 Curated
NCBI sequence viewer
CCDS
CCDS8759 Curated
CCDS41778 Curated
Protein resources for COL2A1
UniProt/Swiss-Prot
P02458
InterProPDBeReactome
AlphaFold
AF-P02458-F1
Orthologs from selected species for COL2A1
Bos taurus
COL2A1 VGNC:27564 VGNC
Canis familiaris
COL2A1 VGNC:39471 VGNC
Equus caballus
COL2A1 VGNC:16737 VGNC
Felis catus
COL2A1 VGNC:61058 VGNC
Macaca mulatta
COL2A1 VGNC:71295 VGNC
Mus musculus
Col2a1 MGI:88452 Curated
Pan troglodytes
COL2A1 VGNC:10704 VGNC
Rattus norvegicus
Col2a1 RGD:2375
Sus scrofa
COL2A1 VGNC:86874 VGNC
Specialist resources for COL2A1
IUPHAR/BPS Guide to PHARMACOLOGY
4899
Clinical resources for COL2A1
OMIM
120140
LSDB
LOVD - Center for Medical Genetics, Ghent, Belgium Curated
GenCC
HGNC:2200
MedlinePlus
Search via COL2A1
DECIPHER
Search via COL2A1
ClinGen
Search via HGNC:2200
Genetic Testing Registry
Search via NCBI Gene ID 1280
ClinVar
Search via NCBI Gene ID 1280
dbVar
Search via NCBI Gene ID 1280
Orphanet
120710
COSMIC
COL2A1
Other resources for COL2A1
AmiGO
Search via P02458
QuickGO
Search via P02458
BioGPS
Search via NCBI Gene ID 1280
GeneCards
Search via HGNC:2200
Monarch
Search via HGNC:2200
WikiGenes
Search via NCBI Gene ID 1280
References for COL2A1