Canonical Allele Identifier: CA683650319

Gene: ALDH2

Linked Data

• dbSNP Id: rs1260226958
• gnomAD v3: 12-111807505-A-G
• gnomAD v4: 12-111807505-A-G
• MyVariant Identifiers: chr12:g.112245309A>G (hg19) ; chr12:g.111807505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111807505A>G , CM000674.2:g.111807505A>G	GRCh38
NC_000012.11:g.112245309A>G , CM000674.1:g.112245309A>G	GRCh37
NC_000012.10:g.110729692A>G	NCBI36
NG_012250.1:g.45964A>G
NG_012250.2:g.45619A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1522-2038A>G MANE Select	ENSP00000261733.2:n.1522-2038A>G
ENST00000261733.6:c.1522-2038A>G	ENSP00000261733.2:n.1522-2038A>G
ENST00000416293.7:c.1381-2038A>G	ENSP00000403349.3:n.1381-2038A>G
ENST00000548536.1:c.*1398-2038A>G	ENSP00000448179.1:n.*1398-2038A>G
ENST00000549106.1:c.453-2038A>G
NM_000690.3:c.1522-2038A>G	NP_000681.2:n.1522-2038A>G
NM_001204889.1:c.1381-2038A>G	NP_001191818.1:n.1381-2038A>G
NM_000690.4:c.1522-2038A>G MANE Select	NP_000681.2:n.1522-2038A>G
NM_001204889.2:c.1381-2038A>G	NP_001191818.1:n.1381-2038A>G