Canonical Allele Identifier: CA368223906
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422976G>A , CM000669.2:g.94422976G>A GRCh38
NC_000007.13:g.94052288G>A , CM000669.1:g.94052288G>A GRCh37
NC_000007.12:g.93890224G>A NCBI36
NG_007405.1:g.33416G>A , LRG_2:g.33416G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2423G>A MANE Select ENSP00000297268.6:p.Gly808Asp
ENST00000297268.10:c.2423G>A ENSP00000297268.6:p.Gly808Asp
ENST00000481570.5:n.506G>A
ENST00000497316.5:n.820G>A
ENST00000620463.1:c.2417G>A ENSP00000477719.1:p.Gly806Asp
NM_000089.3:c.2423G>A , LRG_2t1:c.2423G>A NP_000080.2:p.Gly808Asp
NM_000089.4:c.2423G>A MANE Select NP_000080.2:p.Gly808Asp