Canonical Allele Identifier: CA386748092

Gene: ALDH2

Linked Data

• dbSNP Id: rs1454299460
• gnomAD v2: 12-112241677-A-G
• gnomAD v3: 12-111803873-A-G
• gnomAD v4: 12-111803873-A-G
• MyVariant Identifiers: chr12:g.112241677A>G (hg19) ; chr12:g.111803873A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111803873A>G , CM000674.2:g.111803873A>G	GRCh38
NC_000012.11:g.112241677A>G , CM000674.1:g.112241677A>G	GRCh37
NC_000012.10:g.110726060A>G	NCBI36
NG_012250.1:g.42332A>G
NG_012250.2:g.41987A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.1421A>G MANE Select	ENSP00000261733.2:p.Asp474Gly
ENST00000261733.6:c.1421A>G	ENSP00000261733.2:p.Asp474Gly
ENST00000416293.7:c.1280A>G	ENSP00000403349.3:p.Asp427Gly
ENST00000548536.1:c.*1297A>G	ENSP00000448179.1:n.*1297A>G
ENST00000549106.1:c.352A>G
NM_000690.3:c.1421A>G	NP_000681.2:p.Asp474Gly
NM_001204889.1:c.1280A>G	NP_001191818.1:p.Asp427Gly
NM_000690.4:c.1421A>G MANE Select	NP_000681.2:p.Asp474Gly
NM_001204889.2:c.1280A>G	NP_001191818.1:p.Asp427Gly