Canonical Allele Identifier: CA128085

Gene: ALDH2

Linked Data

• ClinVar Variation Id: 18390
• ClinVar RCV Id: RCV000020060 ; RCV000020062 ; RCV000020061 ; RCV000020058 ; RCV000020059 ; RCV001290000 ; RCV001787815
• dbSNP Id: rs671
• ExAC: 12:112241766 G / A
• gnomAD v2: 12-112241766-G-A
• gnomAD v3: 12-111803962-G-A
• gnomAD v4: 12-111803962-G-A
• MyVariant Identifiers: chr12:g.112241766G>A (hg19) ; chr12:g.111803962G>A (hg38)
• PubMed: PMID:2987944 ; PMID:4065146 ; PMID:6582480 ; PMID:7180842 ; PMID:7593603 ; PMID:8903321 ; PMID:10627091 ; PMID:10780266 ; PMID:15654505 ; PMID:16046871 ; PMID:16440063 ; PMID:17885622 ; PMID:18056758 ; PMID:20010786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111803962G>A , CM000674.2:g.111803962G>A	GRCh38
NC_000012.11:g.112241766G>A , CM000674.1:g.112241766G>A	GRCh37
NC_000012.10:g.110726149G>A	NCBI36
NG_012250.1:g.42421G>A
NG_012250.2:g.42076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1510G>A MANE Select	ENSP00000261733.2:p.Glu504Lys
ENST00000261733.6:c.1510G>A	ENSP00000261733.2:p.Glu504Lys
ENST00000416293.7:c.1369G>A	ENSP00000403349.3:p.Glu457Lys
ENST00000548536.1:c.*1386G>A	ENSP00000448179.1:n.*1386G>A
ENST00000549106.1:c.441G>A
NM_000690.3:c.1510G>A	NP_000681.2:p.Glu504Lys
NM_001204889.1:c.1369G>A	NP_001191818.1:p.Glu457Lys
NM_000690.4:c.1510G>A MANE Select	NP_000681.2:p.Glu504Lys
NM_001204889.2:c.1369G>A	NP_001191818.1:p.Glu457Lys