Canonical Allele Identifier: CA128085
Gene: ALDH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 18390
dbSNP Id: rs671

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111803962G>A , CM000674.2:g.111803962G>A GRCh38
NC_000012.11:g.112241766G>A , CM000674.1:g.112241766G>A GRCh37
NC_000012.10:g.110726149G>A NCBI36
NG_012250.1:g.42421G>A
NG_012250.2:g.42076G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261733.7:c.1510G>A MANE Select ENSP00000261733.2:p.Glu504Lys
ENST00000261733.6:c.1510G>A ENSP00000261733.2:p.Glu504Lys
ENST00000416293.7:c.1369G>A ENSP00000403349.3:p.Glu457Lys
ENST00000548536.1:c.*1386G>A ENSP00000448179.1:p.=
ENST00000549106.1:n.441G>A
NM_000690.3:c.1510G>A NP_000681.2:p.Glu504Lys
NM_001204889.1:c.1369G>A NP_001191818.1:p.Glu457Lys
NM_000690.4:c.1510G>A MANE Select NP_000681.2:p.Glu504Lys
NM_001204889.2:c.1369G>A NP_001191818.1:p.Glu457Lys