Canonical Allele Identifier: CA386748149

Gene: ALDH2

Linked Data

• gnomAD v4: 12-111803885-C-T
• MyVariant Identifiers: chr12:g.112241689C>T (hg19) ; chr12:g.111803885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111803885C>T , CM000674.2:g.111803885C>T	GRCh38
NC_000012.11:g.112241689C>T , CM000674.1:g.112241689C>T	GRCh37
NC_000012.10:g.110726072C>T	NCBI36
NG_012250.1:g.42344C>T
NG_012250.2:g.41999C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1433C>T MANE Select	ENSP00000261733.2:p.Ala478Val
ENST00000261733.6:c.1433C>T	ENSP00000261733.2:p.Ala478Val
ENST00000416293.7:c.1292C>T	ENSP00000403349.3:p.Ala431Val
ENST00000548536.1:c.*1309C>T	ENSP00000448179.1:n.*1309C>T
ENST00000549106.1:c.364C>T
NM_000690.3:c.1433C>T	NP_000681.2:p.Ala478Val
NM_001204889.1:c.1292C>T	NP_001191818.1:p.Ala431Val
NM_000690.4:c.1433C>T MANE Select	NP_000681.2:p.Ala478Val
NM_001204889.2:c.1292C>T	NP_001191818.1:p.Ala431Val