Canonical Allele Identifier: CA386748133

Gene: ALDH2

Linked Data

• gnomAD v4: 12-111803881-G-C
• MyVariant Identifiers: chr12:g.112241685G>C (hg19) ; chr12:g.111803881G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111803881G>C , CM000674.2:g.111803881G>C	GRCh38
NC_000012.11:g.112241685G>C , CM000674.1:g.112241685G>C	GRCh37
NC_000012.10:g.110726068G>C	NCBI36
NG_012250.1:g.42340G>C
NG_012250.2:g.41995G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1429G>C MANE Select	ENSP00000261733.2:p.Gly477Arg
ENST00000261733.6:c.1429G>C	ENSP00000261733.2:p.Gly477Arg
ENST00000416293.7:c.1288G>C	ENSP00000403349.3:p.Gly430Arg
ENST00000548536.1:c.*1305G>C	ENSP00000448179.1:n.*1305G>C
ENST00000549106.1:c.360G>C
NM_000690.3:c.1429G>C	NP_000681.2:p.Gly477Arg
NM_001204889.1:c.1288G>C	NP_001191818.1:p.Gly430Arg
NM_000690.4:c.1429G>C MANE Select	NP_000681.2:p.Gly477Arg
NM_001204889.2:c.1288G>C	NP_001191818.1:p.Gly430Arg