Canonical Allele Identifier: CA243644166

Gene: ALDH2

Linked Data

• dbSNP Id: rs1039703236
• gnomAD v2: 12-112214502-A-T
• gnomAD v3: 12-111776698-A-T
• gnomAD v4: 12-111776698-A-T
• MyVariant Identifiers: chr12:g.112214502A>T (hg19) ; chr12:g.112214502_112214503delinsTT (hg19) ; chr12:g.111776698A>T (hg38) ; chr12:g.111776698_111776699delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111776698A>T , CM000674.2:g.111776698A>T	GRCh38
NC_000012.11:g.112214502A>T , CM000674.1:g.112214502A>T	GRCh37
NC_000012.10:g.110698885A>T	NCBI36
NG_012250.1:g.15157A>T
NG_012250.2:g.14812A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.115-5220A>T MANE Select	ENSP00000261733.2:n.115-5220A>T
ENST00000546840.3:c.105-5220A>T
ENST00000261733.6:c.115-5220A>T	ENSP00000261733.2:n.115-5220A>T
ENST00000416293.7:c.115-5220A>T	ENSP00000403349.3:n.115-5220A>T
ENST00000546840.2:c.100-5220A>T	ENSP00000450353.3:n.100-5220A>T
ENST00000548536.1:c.230+978A>T	ENSP00000448179.1:n.230+978A>T
NM_000690.3:c.115-5220A>T	NP_000681.2:n.115-5220A>T
NM_001204889.1:c.115-5220A>T	NP_001191818.1:n.115-5220A>T
NM_000690.4:c.115-5220A>T MANE Select	NP_000681.2:n.115-5220A>T
NM_001204889.2:c.115-5220A>T	NP_001191818.1:n.115-5220A>T