Canonical Allele Identifier: CA392790187
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010730C>A , CM000677.2:g.58010730C>A GRCh38
NC_000015.9:g.58302928C>A , CM000677.1:g.58302928C>A GRCh37
NC_000015.8:g.56090220C>A NCBI36
NG_012259.1:g.59979G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.412G>T MANE Select ENSP00000249750.4:p.Val138Leu
ENST00000249750.8:c.412G>T ENSP00000249750.4:p.Val138Leu
ENST00000347587.7:c.412G>T ENSP00000309623.3:p.Val138Leu
ENST00000430119.6:c.*386G>T ENSP00000416754.2:n.*386G>T
ENST00000537372.5:c.349G>T ENSP00000438296.1:p.Val117Leu
ENST00000558231.5:c.325G>T ENSP00000453600.1:p.Val109Leu
ENST00000559266.5:n.318+3128G>T
ENST00000559517.5:c.124G>T ENSP00000453408.1:p.Val42Leu
ENST00000561070.5:c.124G>T ENSP00000452850.1:p.Val42Leu
NM_001206897.1:c.349G>T NP_001193826.1:p.Val117Leu
NM_003888.3:c.412G>T NP_003879.2:p.Val138Leu
NM_170696.2:c.412G>T NP_733797.1:p.Val138Leu
NM_170697.2:c.124G>T NP_733798.1:p.Val42Leu
XM_024450095.1:c.412G>T XP_024305863.1:p.Val138Leu
NM_003888.4:c.412G>T MANE Select NP_003879.2:p.Val138Leu
NM_170696.3:c.412G>T NP_733797.1:p.Val138Leu
NM_170697.3:c.124G>T NP_733798.1:p.Val42Leu
NM_001206897.2:c.349G>T NP_001193826.1:p.Val117Leu