Canonical Allele Identifier: CA243657940

Gene: ALDH2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111796564T>C , CM000674.2:g.111796564T>C	GRCh38
NC_000012.11:g.112234368T>C , CM000674.1:g.112234368T>C	GRCh37
NC_000012.10:g.110718751T>C	NCBI36
NG_012250.1:g.35023T>C
NG_012250.2:g.34678T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000690.4:c.1084-1514T>C MANE Select	NP_000681.2:n.1084-1514T>C
ENST00000261733.7:c.1084-1514T>C MANE Select	ENSP00000261733.2:n.1084-1514T>C
NM_000690.3:c.1084-1514T>C	NP_000681.2:n.1084-1514T>C
NM_001204889.1:c.943-1514T>C	NP_001191818.1:n.943-1514T>C
NM_001204889.2:c.943-1514T>C	NP_001191818.1:n.943-1514T>C
ENST00000261733.6:c.1084-1514T>C	ENSP00000261733.2:n.1084-1514T>C
ENST00000416293.7:c.943-1514T>C	ENSP00000403349.3:n.943-1514T>C
ENST00000548536.1:c.*960-1514T>C	ENSP00000448179.1:n.*960-1514T>C
ENST00000549106.1:c.173-1514T>C