Canonical Allele Identifier: CA490587315
Gene: ALDH1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1421766207

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010764T>C , CM000677.2:g.58010764T>C GRCh38
NC_000015.9:g.58302962T>C , CM000677.1:g.58302962T>C GRCh37
NC_000015.8:g.56090254T>C NCBI36
NG_012259.1:g.59945A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.378A>G MANE Select ENSP00000249750.4:p.Leu126=
ENST00000249750.8:c.378A>G ENSP00000249750.4:p.Leu126=
ENST00000347587.7:c.378A>G ENSP00000309623.3:p.Leu126=
ENST00000430119.6:c.*352A>G ENSP00000416754.2:n.*352A>G
ENST00000537372.5:c.315A>G ENSP00000438296.1:p.Leu105=
ENST00000558231.5:c.291A>G ENSP00000453600.1:p.Leu97=
ENST00000559266.5:n.318+3094A>G
ENST00000559517.5:c.90A>G ENSP00000453408.1:p.Leu30=
ENST00000561070.5:c.90A>G ENSP00000452850.1:p.Leu30=
NM_001206897.1:c.315A>G NP_001193826.1:p.Leu105=
NM_003888.3:c.378A>G NP_003879.2:p.Leu126=
NM_170696.2:c.378A>G NP_733797.1:p.Leu126=
NM_170697.2:c.90A>G NP_733798.1:p.Leu30=
XM_024450095.1:c.378A>G XP_024305863.1:p.Leu126=
NM_003888.4:c.378A>G MANE Select NP_003879.2:p.Leu126=
NM_170696.3:c.378A>G NP_733797.1:p.Leu126=
NM_170697.3:c.90A>G NP_733798.1:p.Leu30=
NM_001206897.2:c.315A>G NP_001193826.1:p.Leu105=