Canonical Allele Identifier: CA683650413

Gene: ALDH2

Linked Data

• dbSNP Id: rs1355105776
• gnomAD v3: 12-111807776-A-C
• gnomAD v4: 12-111807776-A-C
• MyVariant Identifiers: chr12:g.112245580A>C (hg19) ; chr12:g.111807776A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111807776A>C , CM000674.2:g.111807776A>C	GRCh38
NC_000012.11:g.112245580A>C , CM000674.1:g.112245580A>C	GRCh37
NC_000012.10:g.110729963A>C	NCBI36
NG_012250.1:g.46235A>C
NG_012250.2:g.45890A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1522-1767A>C MANE Select	ENSP00000261733.2:n.1522-1767A>C
ENST00000261733.6:c.1522-1767A>C	ENSP00000261733.2:n.1522-1767A>C
ENST00000416293.7:c.1381-1767A>C	ENSP00000403349.3:n.1381-1767A>C
ENST00000548536.1:c.*1398-1767A>C	ENSP00000448179.1:n.*1398-1767A>C
ENST00000549106.1:c.453-1767A>C
NM_000690.3:c.1522-1767A>C	NP_000681.2:n.1522-1767A>C
NM_001204889.1:c.1381-1767A>C	NP_001191818.1:n.1381-1767A>C
NM_000690.4:c.1522-1767A>C MANE Select	NP_000681.2:n.1522-1767A>C
NM_001204889.2:c.1381-1767A>C	NP_001191818.1:n.1381-1767A>C