Canonical Allele Identifier: CA10654759
Gene: COL1A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369668
ClinVar RCV Id: RCV000408630
dbSNP Id: rs1057516036

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423065G>A , CM000669.2:g.94423065G>A GRCh38
NC_000007.13:g.94052377G>A , CM000669.1:g.94052377G>A GRCh37
NC_000007.12:g.93890313G>A NCBI36
NG_007405.1:g.33505G>A , LRG_2:g.33505G>A

Transcript Alleles

HGVS Amino-acid change
NM_000089.3:c.2512G>A , LRG_2t1:c.2512G>A NP_000080.2:p.Gly838Ser
ENST00000297268.10:c.2512G>A ENSP00000297268.6:p.Gly838Ser
ENST00000481570.5:n.595G>A
ENST00000497316.5:n.909G>A
ENST00000620463.1:c.2506G>A ENSP00000477719.1:p.Gly836Ser