Canonical Allele Identifier: CA392790084
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010699C>G , CM000677.2:g.58010699C>G GRCh38
NC_000015.9:g.58302897C>G , CM000677.1:g.58302897C>G GRCh37
NC_000015.8:g.56090189C>G NCBI36
NG_012259.1:g.60010G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000249750.9:c.443G>C MANE Select ENSP00000249750.4:p.Arg148Pro
ENST00000249750.8:c.443G>C ENSP00000249750.4:p.Arg148Pro
ENST00000347587.7:c.443G>C ENSP00000309623.3:p.Arg148Pro
ENST00000430119.6:c.*417G>C ENSP00000416754.2:n.*417G>C
ENST00000537372.5:c.380G>C ENSP00000438296.1:p.Arg127Pro
ENST00000558231.5:c.356G>C ENSP00000453600.1:p.Arg119Pro
ENST00000559266.5:n.318+3159G>C
ENST00000559517.5:c.155G>C ENSP00000453408.1:p.Arg52Pro
ENST00000561070.5:c.155G>C ENSP00000452850.1:p.Arg52Pro
NM_001206897.1:c.380G>C NP_001193826.1:p.Arg127Pro
NM_003888.3:c.443G>C NP_003879.2:p.Arg148Pro
NM_170696.2:c.443G>C NP_733797.1:p.Arg148Pro
NM_170697.2:c.155G>C NP_733798.1:p.Arg52Pro
XM_024450095.1:c.443G>C XP_024305863.1:p.Arg148Pro
NM_003888.4:c.443G>C MANE Select NP_003879.2:p.Arg148Pro
NM_170696.3:c.443G>C NP_733797.1:p.Arg148Pro
NM_170697.3:c.155G>C NP_733798.1:p.Arg52Pro
NM_001206897.2:c.380G>C NP_001193826.1:p.Arg127Pro