Canonical Allele Identifier: CA6793256

Gene: ALDH2

Linked Data

• dbSNP Id: rs569388000
• ExAC: 12:112241771 G / A
• gnomAD v2: 12-112241771-G-A
• gnomAD v3: 12-111803967-G-A
• gnomAD v4: 12-111803967-G-A
• MyVariant Identifiers: chr12:g.112241771G>A (hg19) ; chr12:g.111803967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111803967G>A , CM000674.2:g.111803967G>A	GRCh38
NC_000012.11:g.112241771G>A , CM000674.1:g.112241771G>A	GRCh37
NC_000012.10:g.110726154G>A	NCBI36
NG_012250.1:g.42426G>A
NG_012250.2:g.42081G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.1515G>A MANE Select	ENSP00000261733.2:p.Val505=
ENST00000261733.6:c.1515G>A	ENSP00000261733.2:p.Val505=
ENST00000416293.7:c.1374G>A	ENSP00000403349.3:p.Val458=
ENST00000548536.1:c.*1391G>A	ENSP00000448179.1:n.*1391G>A
ENST00000549106.1:c.446G>A
NM_000690.3:c.1515G>A	NP_000681.2:p.Val505=
NM_001204889.1:c.1374G>A	NP_001191818.1:p.Val458=
NM_000690.4:c.1515G>A MANE Select	NP_000681.2:p.Val505=
NM_001204889.2:c.1374G>A	NP_001191818.1:p.Val458=