Canonical Allele Identifier: CA655043385
Gene: ALDH2 HGNC NCBI

Linked Data

COSMIC: COSN15750926
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111806464T>A , CM000674.2:g.111806464T>A GRCh38
NC_000012.11:g.112244268T>A , CM000674.1:g.112244268T>A GRCh37
NC_000012.10:g.110728651T>A NCBI36
NG_012250.1:g.44923T>A
NG_012250.2:g.44578T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261733.7:c.1521+2491T>A MANE Select ENSP00000261733.2:n.1521+2491T>A
ENST00000261733.6:c.1521+2491T>A ENSP00000261733.2:n.1521+2491T>A
ENST00000416293.7:c.1380+2491T>A ENSP00000403349.3:n.1380+2491T>A
ENST00000548536.1:c.*1397+2491T>A ENSP00000448179.1:n.*1397+2491T>A
ENST00000549106.1:c.452+2491T>A
NM_000690.3:c.1521+2491T>A NP_000681.2:n.1521+2491T>A
NM_001204889.1:c.1380+2491T>A NP_001191818.1:n.1380+2491T>A
NM_000690.4:c.1521+2491T>A MANE Select NP_000681.2:n.1521+2491T>A
NM_001204889.2:c.1380+2491T>A NP_001191818.1:n.1380+2491T>A
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