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Symbol report for COL1A2

Stable symbol

HGNC data for COL1A2

Approved symbol
COL1A2
Approved name

collagen type I alpha 2 chain

Locus type
gene with protein product
HGNC ID
HGNC:2198
Symbol status
Approved
Previous symbols
OI4
Previous names
osteogenesis imperfecta type IV
collagen, type I, alpha 2
collagen type I alpha 2
Alias names
alpha 2(I)-collagen
alpha-2 collagen type I
type I procollagen
collagen I, alpha-2 polypeptide
collagen of skin, tendon and bone, alpha-2 chain
Chromosomal location
7q21.3
Gene groups
Gene resources for COL1A2
Ensembl
ENSG00000164692 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
1278 Curated
UCSC
uc003ung.1
Alliance of Genome Resources
HGNC:2198
Nucleotide resources for COL1A2
MANE Select
NM_000089.4
ENST00000297268.11
INSDC
Z74616 Curated
ENAGenBankDDBJ
RefSeq
NM_000089 Curated
NCBI sequence viewer
CCDS
CCDS34682 Curated
Protein resources for COL1A2
UniProt/Swiss-Prot
P08123
InterProPDBeReactome
AlphaFold
AF-P08123-F1
Orthologs from selected species for COL1A2
Bos taurus
COL1A2 VGNC:27561 VGNC
Canis familiaris
COL1A2 VGNC:39465 VGNC
Equus caballus
COL1A2 VGNC:16731 VGNC
Felis catus
COL1A2 VGNC:78411 VGNC
Macaca mulatta
COL1A2 VGNC:81292 VGNC
Mus musculus
Col1a2 MGI:88468 Curated
Pan troglodytes
COL1A2 VGNC:10658 VGNC
Rattus norvegicus
Col1a2 RGD:621351
Sus scrofa
COL1A2 VGNC:86871 VGNC
Clinical resources for COL1A2
OMIM
120160
LRG
LRG_2 Curated
LSDB
Osteogenesis Imperfecta Variant Database Curated
GenCC
HGNC:2198
MedlinePlus
Search via COL1A2
DECIPHER
Search via COL1A2
ClinGen
Search via HGNC:2198
Genetic Testing Registry
Search via NCBI Gene ID 1278
ClinVar
Search via NCBI Gene ID 1278
dbVar
Search via NCBI Gene ID 1278
Orphanet
120707
Other resources for COL1A2
AmiGO
Search via P08123
QuickGO
Search via P08123
BioGPS
Search via NCBI Gene ID 1278
GeneCards
Search via HGNC:2198
Monarch
Search via HGNC:2198
WikiGenes
Search via NCBI Gene ID 1278
References for COL1A2