Canonical Allele Identifier: CA386748084
Gene: ALDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1346835437
gnomAD v2: 12-112241676-G-A
MyVariant Identifiers: chr12:g.112241676G>A (hg19) chr12:g.111803872G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111803872G>A , CM000674.2:g.111803872G>A GRCh38
NC_000012.11:g.112241676G>A , CM000674.1:g.112241676G>A GRCh37
NC_000012.10:g.110726059G>A NCBI36
NG_012250.1:g.42331G>A
NG_012250.2:g.41986G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261733.7:c.1420G>A MANE Select ENSP00000261733.2:p.Asp474Asn
ENST00000261733.6:c.1420G>A ENSP00000261733.2:p.Asp474Asn
ENST00000416293.7:c.1279G>A ENSP00000403349.3:p.Asp427Asn
ENST00000548536.1:c.*1296G>A ENSP00000448179.1:n.*1296G>A
ENST00000549106.1:c.351G>A
NM_000690.3:c.1420G>A NP_000681.2:p.Asp474Asn
NM_001204889.1:c.1279G>A NP_001191818.1:p.Asp427Asn
NM_000690.4:c.1420G>A MANE Select NP_000681.2:p.Asp474Asn
NM_001204889.2:c.1279G>A NP_001191818.1:p.Asp427Asn
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