Canonical Allele Identifier: CA162938084
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs72658197

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423111G>T , CM000669.2:g.94423111G>T GRCh38
NC_000007.13:g.94052423G>T , CM000669.1:g.94052423G>T GRCh37
NC_000007.12:g.93890359G>T NCBI36
NG_007405.1:g.33551G>T , LRG_2:g.33551G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2558G>T MANE Select ENSP00000297268.6:p.Gly853Val
ENST00000297268.10:c.2558G>T ENSP00000297268.6:p.Gly853Val
ENST00000481570.5:n.641G>T
ENST00000497316.5:n.955G>T
ENST00000620463.1:c.2552G>T ENSP00000477719.1:p.Gly851Val
NM_000089.3:c.2558G>T , LRG_2t1:c.2558G>T NP_000080.2:p.Gly853Val
NM_000089.4:c.2558G>T MANE Select NP_000080.2:p.Gly853Val