Canonical Allele Identifier: CA683649728

Gene: ALDH2

Linked Data

• dbSNP Id: rs1266756206
• gnomAD v3: 12-111806460-C-T
• gnomAD v4: 12-111806460-C-T
• MyVariant Identifiers: chr12:g.112244264C>T (hg19) ; chr12:g.111806460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111806460C>T , CM000674.2:g.111806460C>T	GRCh38
NC_000012.11:g.112244264C>T , CM000674.1:g.112244264C>T	GRCh37
NC_000012.10:g.110728647C>T	NCBI36
NG_012250.1:g.44919C>T
NG_012250.2:g.44574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1521+2487C>T MANE Select	ENSP00000261733.2:n.1521+2487C>T
ENST00000261733.6:c.1521+2487C>T	ENSP00000261733.2:n.1521+2487C>T
ENST00000416293.7:c.1380+2487C>T	ENSP00000403349.3:n.1380+2487C>T
ENST00000548536.1:c.*1397+2487C>T	ENSP00000448179.1:n.*1397+2487C>T
ENST00000549106.1:c.452+2487C>T
NM_000690.3:c.1521+2487C>T	NP_000681.2:n.1521+2487C>T
NM_001204889.1:c.1380+2487C>T	NP_001191818.1:n.1380+2487C>T
NM_000690.4:c.1521+2487C>T MANE Select	NP_000681.2:n.1521+2487C>T
NM_001204889.2:c.1380+2487C>T	NP_001191818.1:n.1380+2487C>T