Canonical Allele Identifier: CA607358526

Gene: ALDH2

Linked Data

• dbSNP Id: rs971647436
• gnomAD v2: 12-112214410-CA-C
• gnomAD v3: 12-111776606-CA-C
• gnomAD v4: 12-111776606-CA-C
• MyVariant Identifiers: chr12:g.112214411del (hg19) ; chr12:g.111776607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111776614del , CM000674.2:g.111776614del	GRCh38
NC_000012.11:g.112214418del , CM000674.1:g.112214418del	GRCh37
NC_000012.10:g.110698801del	NCBI36
NG_012250.1:g.15073del
NG_012250.2:g.14728del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.115-5304del MANE Select	ENSP00000261733.2:n.115-5304del
ENST00000546840.3:c.105-5304del
ENST00000261733.6:c.115-5304del	ENSP00000261733.2:n.115-5304del
ENST00000416293.7:c.115-5304del	ENSP00000403349.3:n.115-5304del
ENST00000546840.2:c.100-5304del	ENSP00000450353.3:n.100-5304del
ENST00000548536.1:c.230+894del	ENSP00000448179.1:n.230+894del
NM_000690.3:c.115-5304del	NP_000681.2:n.115-5304del
NM_001204889.1:c.115-5304del	NP_001191818.1:n.115-5304del
NM_000690.4:c.115-5304del MANE Select	NP_000681.2:n.115-5304del
NM_001204889.2:c.115-5304del	NP_001191818.1:n.115-5304del