Canonical Allele Identifier: CA257762
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17246
ClinVar RCV Id: RCV000018786
dbSNP Id: rs121912904
gnomAD v4: 7-94422967-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422967G>A , CM000669.2:g.94422967G>A GRCh38
NC_000007.13:g.94052279G>A , CM000669.1:g.94052279G>A GRCh37
NC_000007.12:g.93890215G>A NCBI36
NG_007405.1:g.33407G>A , LRG_2:g.33407G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2414G>A MANE Select ENSP00000297268.6:p.Gly805Asp
ENST00000297268.10:c.2414G>A ENSP00000297268.6:p.Gly805Asp
ENST00000481570.5:n.497G>A
ENST00000497316.5:n.811G>A
ENST00000620463.1:c.2408G>A ENSP00000477719.1:p.Gly803Asp
NM_000089.3:c.2414G>A , LRG_2t1:c.2414G>A NP_000080.2:p.Gly805Asp
NM_000089.4:c.2414G>A MANE Select NP_000080.2:p.Gly805Asp