Canonical Allele Identifier: CA128085
Gene: ALDH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 18390
ClinVar RCV Id: RCV000020058 RCV000020059 RCV000020060 RCV000020061 RCV000020062 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
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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
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Search 100 bp 3'