Canonical Allele Identifier: CA2063463759
Gene: ALDH2 HGNC NCBI

Linked Data

dbSNP Id: rs2068495523
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111806444_111806456del , CM000674.2:g.111806444_111806456del GRCh38
NC_000012.11:g.112244248_112244260del , CM000674.1:g.112244248_112244260del GRCh37
NC_000012.10:g.110728631_110728643del NCBI36
NG_012250.1:g.44903_44915del
NG_012250.2:g.44558_44570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261733.7:c.1521+2471_1521+2483del MANE Select ENSP00000261733.2:n.1521+2471_1521+2483del
ENST00000261733.6:c.1521+2471_1521+2483del ENSP00000261733.2:n.1521+2471_1521+2483del
ENST00000416293.7:c.1380+2471_1380+2483del ENSP00000403349.3:n.1380+2471_1380+2483del
ENST00000548536.1:c.*1397+2471_*1397+2483del ENSP00000448179.1:n.*1397+2471_*1397+2483del
ENST00000549106.1:c.452+2471_452+2483del
NM_000690.3:c.1521+2471_1521+2483del NP_000681.2:n.1521+2471_1521+2483del
NM_001204889.1:c.1380+2471_1380+2483del NP_001191818.1:n.1380+2471_1380+2483del
NM_000690.4:c.1521+2471_1521+2483del MANE Select NP_000681.2:n.1521+2471_1521+2483del
NM_001204889.2:c.1380+2471_1380+2483del NP_001191818.1:n.1380+2471_1380+2483del
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