Canonical Allele Identifier: CA2727055448
Gene: ALDH2 HGNC NCBI

Linked Data

dbSNP Id: rs565931073
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111806479G>C , CM000674.2:g.111806479G>C GRCh38
NC_000012.11:g.112244283G>C , CM000674.1:g.112244283G>C GRCh37
NC_000012.10:g.110728666G>C NCBI36
NG_012250.1:g.44938G>C
NG_012250.2:g.44593G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261733.7:c.1521+2506G>C MANE Select ENSP00000261733.2:n.1521+2506G>C
ENST00000261733.6:c.1521+2506G>C ENSP00000261733.2:n.1521+2506G>C
ENST00000416293.7:c.1380+2506G>C ENSP00000403349.3:n.1380+2506G>C
ENST00000548536.1:c.*1397+2506G>C ENSP00000448179.1:n.*1397+2506G>C
ENST00000549106.1:c.452+2506G>C
NM_000690.3:c.1521+2506G>C NP_000681.2:n.1521+2506G>C
NM_001204889.1:c.1380+2506G>C NP_001191818.1:n.1380+2506G>C
NM_000690.4:c.1521+2506G>C MANE Select NP_000681.2:n.1521+2506G>C
NM_001204889.2:c.1380+2506G>C NP_001191818.1:n.1380+2506G>C
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