Canonical Allele Identifier: CA243665484
Gene: ALDH2 HGNC NCBI

Linked Data

dbSNP Id: rs934784225
gnomAD v2: 12-112245272-G-A
gnomAD v3: 12-111807468-G-A
gnomAD v4: 12-111807468-G-A
MyVariant Identifiers: chr12:g.112245272G>A (hg19) chr12:g.111807468G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111807468G>A , CM000674.2:g.111807468G>A GRCh38
NC_000012.11:g.112245272G>A , CM000674.1:g.112245272G>A GRCh37
NC_000012.10:g.110729655G>A NCBI36
NG_012250.1:g.45927G>A
NG_012250.2:g.45582G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261733.7:c.1522-2075G>A MANE Select ENSP00000261733.2:n.1522-2075G>A
ENST00000261733.6:c.1522-2075G>A ENSP00000261733.2:n.1522-2075G>A
ENST00000416293.7:c.1381-2075G>A ENSP00000403349.3:n.1381-2075G>A
ENST00000548536.1:c.*1398-2075G>A ENSP00000448179.1:n.*1398-2075G>A
ENST00000549106.1:c.453-2075G>A
NM_000690.3:c.1522-2075G>A NP_000681.2:n.1522-2075G>A
NM_001204889.1:c.1381-2075G>A NP_001191818.1:n.1381-2075G>A
NM_000690.4:c.1522-2075G>A MANE Select NP_000681.2:n.1522-2075G>A
NM_001204889.2:c.1381-2075G>A NP_001191818.1:n.1381-2075G>A
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