Canonical Allele Identifier: CA392789881
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010654G>C , CM000677.2:g.58010654G>C GRCh38
NC_000015.9:g.58302852G>C , CM000677.1:g.58302852G>C GRCh37
NC_000015.8:g.56090144G>C NCBI36
NG_012259.1:g.60055C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.488C>G MANE Select ENSP00000249750.4:p.Pro163Arg
ENST00000249750.8:c.488C>G ENSP00000249750.4:p.Pro163Arg
ENST00000347587.7:c.488C>G ENSP00000309623.3:p.Pro163Arg
ENST00000430119.6:c.*462C>G ENSP00000416754.2:n.*462C>G
ENST00000537372.5:c.425C>G ENSP00000438296.1:p.Pro142Arg
ENST00000558231.5:c.401C>G ENSP00000453600.1:p.Pro134Arg
ENST00000559266.5:n.318+3204C>G
ENST00000559517.5:c.200C>G ENSP00000453408.1:p.Pro67Arg
ENST00000561070.5:c.200C>G ENSP00000452850.1:p.Pro67Arg
NM_001206897.1:c.425C>G NP_001193826.1:p.Pro142Arg
NM_003888.3:c.488C>G NP_003879.2:p.Pro163Arg
NM_170696.2:c.488C>G NP_733797.1:p.Pro163Arg
NM_170697.2:c.200C>G NP_733798.1:p.Pro67Arg
XM_024450095.1:c.488C>G XP_024305863.1:p.Pro163Arg
NM_003888.4:c.488C>G MANE Select NP_003879.2:p.Pro163Arg
NM_170696.3:c.488C>G NP_733797.1:p.Pro163Arg
NM_170697.3:c.200C>G NP_733798.1:p.Pro67Arg
NM_001206897.2:c.425C>G NP_001193826.1:p.Pro142Arg