Canonical Allele Identifier: CA951867507

Gene: ALDH2

Linked Data

• dbSNP Id: rs2068496543
• gnomAD v3: 12-111806562-T-G
• gnomAD v4: 12-111806562-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111806562T>G , CM000674.2:g.111806562T>G	GRCh38
NC_000012.11:g.112244366T>G , CM000674.1:g.112244366T>G	GRCh37
NC_000012.10:g.110728749T>G	NCBI36
NG_012250.1:g.45021T>G
NG_012250.2:g.44676T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.1521+2589T>G MANE Select	ENSP00000261733.2:n.1521+2589T>G
ENST00000261733.6:c.1521+2589T>G	ENSP00000261733.2:n.1521+2589T>G
ENST00000416293.7:c.1380+2589T>G	ENSP00000403349.3:n.1380+2589T>G
ENST00000548536.1:c.*1397+2589T>G	ENSP00000448179.1:n.*1397+2589T>G
ENST00000549106.1:c.452+2589T>G
NM_000690.3:c.1521+2589T>G	NP_000681.2:n.1521+2589T>G
NM_001204889.1:c.1380+2589T>G	NP_001191818.1:n.1380+2589T>G
NM_000690.4:c.1521+2589T>G MANE Select	NP_000681.2:n.1521+2589T>G
NM_001204889.2:c.1380+2589T>G	NP_001191818.1:n.1380+2589T>G