Canonical Allele Identifier: CA368224103
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423083G>A , CM000669.2:g.94423083G>A GRCh38
NC_000007.13:g.94052395G>A , CM000669.1:g.94052395G>A GRCh37
NC_000007.12:g.93890331G>A NCBI36
NG_007405.1:g.33523G>A , LRG_2:g.33523G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2530G>A MANE Select ENSP00000297268.6:p.Gly844Ser
ENST00000297268.10:c.2530G>A ENSP00000297268.6:p.Gly844Ser
ENST00000481570.5:n.613G>A
ENST00000497316.5:n.927G>A
ENST00000620463.1:c.2524G>A ENSP00000477719.1:p.Gly842Ser
NM_000089.3:c.2530G>A , LRG_2t1:c.2530G>A NP_000080.2:p.Gly844Ser
NM_000089.4:c.2530G>A MANE Select NP_000080.2:p.Gly844Ser