Canonical Allele Identifier: CA481775795
Gene: ALDH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.112241684T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111803880T>C , CM000674.2:g.111803880T>C GRCh38
NC_000012.11:g.112241684T>C , CM000674.1:g.112241684T>C GRCh37
NC_000012.10:g.110726067T>C NCBI36
NG_012250.1:g.42339T>C
NG_012250.2:g.41994T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261733.7:c.1428T>C MANE Select ENSP00000261733.2:p.Phe476=
ENST00000261733.6:c.1428T>C ENSP00000261733.2:p.Phe476=
ENST00000416293.7:c.1287T>C ENSP00000403349.3:p.Phe429=
ENST00000548536.1:c.*1304T>C ENSP00000448179.1:n.*1304T>C
ENST00000549106.1:c.359T>C
NM_000690.3:c.1428T>C NP_000681.2:p.Phe476=
NM_001204889.1:c.1287T>C NP_001191818.1:p.Phe429=
NM_000690.4:c.1428T>C MANE Select NP_000681.2:p.Phe476=
NM_001204889.2:c.1287T>C NP_001191818.1:p.Phe429=
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