Canonical Allele Identifier: CA243653314

Gene: ALDH2

Linked Data

• dbSNP Id: rs192386824
• gnomAD v2: 12-112228898-G-C
• gnomAD v3: 12-111791094-G-C
• gnomAD v4: 12-111791094-G-C
• MyVariant Identifiers: chr12:g.112228898G>C (hg19) ; chr12:g.111791094G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111791094G>C , CM000674.2:g.111791094G>C	GRCh38
NC_000012.11:g.112228898G>C , CM000674.1:g.112228898G>C	GRCh37
NC_000012.10:g.110713281G>C	NCBI36
NG_012250.1:g.29553G>C
NG_012250.2:g.29208G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.682-212G>C MANE Select	ENSP00000261733.2:n.682-212G>C
ENST00000546840.3:c.672-212G>C
ENST00000261733.6:c.682-212G>C	ENSP00000261733.2:n.682-212G>C
ENST00000416293.7:c.541-212G>C	ENSP00000403349.3:n.541-212G>C
ENST00000546840.2:c.667-212G>C	ENSP00000450353.3:n.667-212G>C
ENST00000548536.1:c.*558-212G>C	ENSP00000448179.1:n.*558-212G>C
NM_000690.3:c.682-212G>C	NP_000681.2:n.682-212G>C
NM_001204889.1:c.541-212G>C	NP_001191818.1:n.541-212G>C
NM_000690.4:c.682-212G>C MANE Select	NP_000681.2:n.682-212G>C
NM_001204889.2:c.541-212G>C	NP_001191818.1:n.541-212G>C