Canonical Allele Identifier: CA951867704

Gene: ALDH2

Linked Data

• dbSNP Id: rs1478682821
• gnomAD v3: 12-111807845-G-T
• gnomAD v4: 12-111807845-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111807845G>T , CM000674.2:g.111807845G>T	GRCh38
NC_000012.11:g.112245649G>T , CM000674.1:g.112245649G>T	GRCh37
NC_000012.10:g.110730032G>T	NCBI36
NG_012250.1:g.46304G>T
NG_012250.2:g.45959G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1522-1698G>T MANE Select	ENSP00000261733.2:n.1522-1698G>T
ENST00000261733.6:c.1522-1698G>T	ENSP00000261733.2:n.1522-1698G>T
ENST00000416293.7:c.1381-1698G>T	ENSP00000403349.3:n.1381-1698G>T
ENST00000548536.1:c.*1398-1698G>T	ENSP00000448179.1:n.*1398-1698G>T
ENST00000549106.1:c.453-1698G>T
NM_000690.3:c.1522-1698G>T	NP_000681.2:n.1522-1698G>T
NM_001204889.1:c.1381-1698G>T	NP_001191818.1:n.1381-1698G>T
NM_000690.4:c.1522-1698G>T MANE Select	NP_000681.2:n.1522-1698G>T
NM_001204889.2:c.1381-1698G>T	NP_001191818.1:n.1381-1698G>T