Canonical Allele Identifier: CA683650371

Gene: ALDH2

Linked Data

• dbSNP Id: rs1314430431
• MyVariant Identifiers: chr12:g.112245461_112245462del (hg19) ; chr12:g.111807657_111807658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111807659_111807660del , CM000674.2:g.111807659_111807660del	GRCh38
NC_000012.11:g.112245463_112245464del , CM000674.1:g.112245463_112245464del	GRCh37
NC_000012.10:g.110729846_110729847del	NCBI36
NG_012250.1:g.46118_46119del
NG_012250.2:g.45773_45774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1522-1884_1522-1883del MANE Select	ENSP00000261733.2:n.1522-1884_1522-1883del
ENST00000261733.6:c.1522-1884_1522-1883del	ENSP00000261733.2:n.1522-1884_1522-1883del
ENST00000416293.7:c.1381-1884_1381-1883del	ENSP00000403349.3:n.1381-1884_1381-1883del
ENST00000548536.1:c.*1398-1884_*1398-1883del	ENSP00000448179.1:n.*1398-1884_*1398-1883del
ENST00000549106.1:c.453-1884_453-1883del
NM_000690.3:c.1522-1884_1522-1883del	NP_000681.2:n.1522-1884_1522-1883del
NM_001204889.1:c.1381-1884_1381-1883del	NP_001191818.1:n.1381-1884_1381-1883del
NM_000690.4:c.1522-1884_1522-1883del MANE Select	NP_000681.2:n.1522-1884_1522-1883del
NM_001204889.2:c.1381-1884_1381-1883del	NP_001191818.1:n.1381-1884_1381-1883del