Canonical Allele Identifier: CA683640888

Gene: ALDH2

Linked Data

• dbSNP Id: rs1418307343
• gnomAD v3: 12-111791053-AAC-A
• gnomAD v4: 12-111791053-AAC-A
• MyVariant Identifiers: chr12:g.112228858_112228859del (hg19) ; chr12:g.111791054_111791055del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111791055_111791056del , CM000674.2:g.111791055_111791056del	GRCh38
NC_000012.11:g.112228859_112228860del , CM000674.1:g.112228859_112228860del	GRCh37
NC_000012.10:g.110713242_110713243del	NCBI36
NG_012250.1:g.29514_29515del
NG_012250.2:g.29169_29170del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.682-251_682-250del MANE Select	ENSP00000261733.2:n.682-251_682-250del
ENST00000546840.3:c.672-251_672-250del
ENST00000261733.6:c.682-251_682-250del	ENSP00000261733.2:n.682-251_682-250del
ENST00000416293.7:c.541-251_541-250del	ENSP00000403349.3:n.541-251_541-250del
ENST00000546840.2:c.667-251_667-250del	ENSP00000450353.3:n.667-251_667-250del
ENST00000548536.1:c.*558-251_*558-250del	ENSP00000448179.1:n.*558-251_*558-250del
NM_000690.3:c.682-251_682-250del	NP_000681.2:n.682-251_682-250del
NM_001204889.1:c.541-251_541-250del	NP_001191818.1:n.541-251_541-250del
NM_000690.4:c.682-251_682-250del MANE Select	NP_000681.2:n.682-251_682-250del
NM_001204889.2:c.541-251_541-250del	NP_001191818.1:n.541-251_541-250del