Canonical Allele Identifier: CA392790075
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010697A>C , CM000677.2:g.58010697A>C GRCh38
NC_000015.9:g.58302895A>C , CM000677.1:g.58302895A>C GRCh37
NC_000015.8:g.56090187A>C NCBI36
NG_012259.1:g.60012T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.445T>G MANE Select ENSP00000249750.4:p.Tyr149Asp
ENST00000249750.8:c.445T>G ENSP00000249750.4:p.Tyr149Asp
ENST00000347587.7:c.445T>G ENSP00000309623.3:p.Tyr149Asp
ENST00000430119.6:c.*419T>G ENSP00000416754.2:n.*419T>G
ENST00000537372.5:c.382T>G ENSP00000438296.1:p.Tyr128Asp
ENST00000558231.5:c.358T>G ENSP00000453600.1:p.Tyr120Asp
ENST00000559266.5:n.318+3161T>G
ENST00000559517.5:c.157T>G ENSP00000453408.1:p.Tyr53Asp
ENST00000561070.5:c.157T>G ENSP00000452850.1:p.Tyr53Asp
NM_001206897.1:c.382T>G NP_001193826.1:p.Tyr128Asp
NM_003888.3:c.445T>G NP_003879.2:p.Tyr149Asp
NM_170696.2:c.445T>G NP_733797.1:p.Tyr149Asp
NM_170697.2:c.157T>G NP_733798.1:p.Tyr53Asp
XM_024450095.1:c.445T>G XP_024305863.1:p.Tyr149Asp
NM_003888.4:c.445T>G MANE Select NP_003879.2:p.Tyr149Asp
NM_170696.3:c.445T>G NP_733797.1:p.Tyr149Asp
NM_170697.3:c.157T>G NP_733798.1:p.Tyr53Asp
NM_001206897.2:c.382T>G NP_001193826.1:p.Tyr128Asp