Canonical Allele Identifier: CA2063464010
Gene: ALDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111806609C= , CM000674.2:g.111806609C= GRCh38
NC_000012.11:g.112244413C= , CM000674.1:g.112244413C= GRCh37
NC_000012.10:g.110728796C= NCBI36
NG_012250.1:g.45068C=
NG_012250.2:g.44723C=

Transcript Alleles

HGVS Amino-acid Change
NM_000690.4:c.1521+2636C= MANE Select NP_000681.2:n.1521+2636C=
ENST00000261733.7:c.1521+2636C= MANE Select ENSP00000261733.2:n.1521+2636C=
NM_000690.3:c.1521+2636C= NP_000681.2:n.1521+2636C=
NM_001204889.1:c.1380+2636C= NP_001191818.1:n.1380+2636C=
NM_001204889.2:c.1380+2636C= NP_001191818.1:n.1380+2636C=
ENST00000261733.6:c.1521+2636C= ENSP00000261733.2:n.1521+2636C=
ENST00000416293.7:c.1380+2636C= ENSP00000403349.3:n.1380+2636C=
ENST00000548536.1:c.*1397+2636C= ENSP00000448179.1:n.*1397+2636C=
ENST00000549106.1:c.452+2636C=