Canonical Allele Identifier: CA607360478

Gene: ALDH2

Linked Data

• dbSNP Id: rs1484286657
• gnomAD v2: 12-112244256-T-G
• gnomAD v3: 12-111806452-T-G
• gnomAD v4: 12-111806452-T-G
• MyVariant Identifiers: chr12:g.112244256T>G (hg19) ; chr12:g.111806452T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111806452T>G , CM000674.2:g.111806452T>G	GRCh38
NC_000012.11:g.112244256T>G , CM000674.1:g.112244256T>G	GRCh37
NC_000012.10:g.110728639T>G	NCBI36
NG_012250.1:g.44911T>G
NG_012250.2:g.44566T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.1521+2479T>G MANE Select	ENSP00000261733.2:n.1521+2479T>G
ENST00000261733.6:c.1521+2479T>G	ENSP00000261733.2:n.1521+2479T>G
ENST00000416293.7:c.1380+2479T>G	ENSP00000403349.3:n.1380+2479T>G
ENST00000548536.1:c.*1397+2479T>G	ENSP00000448179.1:n.*1397+2479T>G
ENST00000549106.1:c.452+2479T>G
NM_000690.3:c.1521+2479T>G	NP_000681.2:n.1521+2479T>G
NM_001204889.1:c.1380+2479T>G	NP_001191818.1:n.1380+2479T>G
NM_000690.4:c.1521+2479T>G MANE Select	NP_000681.2:n.1521+2479T>G
NM_001204889.2:c.1380+2479T>G	NP_001191818.1:n.1380+2479T>G