Canonical Allele Identifier: CA2580092707
Gene: ALDH3A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151163
ClinVar RCV Id: RCV003061197

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19671897dup , CM000679.2:g.19671897dup GRCh38
NC_000017.10:g.19575210dup , CM000679.1:g.19575210dup GRCh37
NC_000017.9:g.19515802dup NCBI36
NG_007095.2:g.28147dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000176643.11:c.1384dup MANE Select ENSP00000176643.6:p.Glu462GlyfsTer?
ENST00000395575.7:c.1057dup ENSP00000378942.3:p.Glu353GlyfsTer?
ENST00000472059.6:c.*942dup ENSP00000458397.1:n.*942dup
ENST00000571163.2:c.227-3599dup ENSP00000459977.2:n.227-3599dup
ENST00000573947.2:c.184dup ENSP00000462933.2:p.Glu62GlyfsTer22
ENST00000574078.3:n.713dup
ENST00000581518.6:c.1384dup ENSP00000461916.2:p.Glu462GlyfsTer?
ENST00000582991.6:c.*102dup ENSP00000464153.1:n.*102dup
ENST00000671878.1:c.1384dup ENSP00000500516.1:p.Glu462GlyfsTer?
ENST00000672059.1:n.1735dup
ENST00000672357.1:c.1384dup ENSP00000500092.1:p.Glu462GlyfsTer?
ENST00000672465.1:c.1384dup ENSP00000500517.1:p.Glu462GlyfsTer?
ENST00000672487.1:c.*564dup ENSP00000500740.1:n.*564dup
ENST00000672564.1:n.3053dup
ENST00000672567.1:c.1098+6850dup
ENST00000672591.1:c.444dup
ENST00000672608.1:n.2373dup
ENST00000672709.1:c.1238dup
ENST00000673064.1:n.1884dup
ENST00000673136.1:c.1208-3599dup ENSP00000500380.1:n.1208-3599dup
ENST00000673472.1:n.1720dup
ENST00000673516.1:n.1844dup
ENST00000176643.10:c.1384dup ENSP00000176643.6:p.Glu462GlyfsTer?
ENST00000339618.8:c.1384dup ENSP00000345774.4:p.Glu462GlyfsTer?
ENST00000395575.6:c.1384dup ENSP00000378942.2:p.Glu462GlyfsTer?
ENST00000472059.5:c.*942dup ENSP00000458397.1:n.*942dup
ENST00000476965.5:n.1134dup
ENST00000571163.1:c.227-3661dup ENSP00000459977.1:n.227-3661dup
ENST00000573565.1:c.99dup
ENST00000573947.1:c.291dup ENSP00000462933.1:n.291dup
ENST00000575384.2:c.130dup ENSP00000461235.2:p.Glu44GlyfsTer?
ENST00000579855.5:c.1384dup ENSP00000463637.1:p.Glu462GlyfsTer?
ENST00000581518.5:c.1384dup ENSP00000461916.1:p.Glu462GlyfsTer?
ENST00000582991.5:c.*102dup ENSP00000464153.1:n.*102dup
ENST00000630662.2:c.227-3661dup ENSP00000487353.1:n.227-3661dup
ENST00000631291.2:c.*102dup ENSP00000486085.1:n.*102dup
NM_000382.2:c.1384dup NP_000373.1:p.Glu462GlyfsTer?
NM_001031806.1:c.1384dup NP_001026976.1:p.Glu462GlyfsTer?
XM_011523732.1:c.1384dup XP_011522034.1:p.Glu462GlyfsTer?
XM_011523733.1:c.1384dup XP_011522035.1:p.Glu462GlyfsTer?
XM_011523733.2:c.1384dup XP_011522035.1:p.Glu462GlyfsTer?
XM_017024355.1:c.1208-3661dup XP_016879844.1:n.1208-3661dup
XM_017024356.2:c.1384dup XP_016879845.1:p.Glu462GlyfsTer?
XM_017024357.1:c.1384dup XP_016879846.1:p.Glu462GlyfsTer?
XM_017024358.2:c.1208-3661dup XP_016879847.1:n.1208-3661dup
XM_024450651.1:c.805dup XP_024306419.1:p.Glu269GlyfsTer?
XM_024450652.1:c.805dup XP_024306420.1:p.Glu269GlyfsTer?
NM_000382.3:c.1384dup MANE Select NP_000373.1:p.Glu462GlyfsTer?
NM_001031806.2:c.1384dup NP_001026976.1:p.Glu462GlyfsTer?
NM_001369136.1:c.1384dup NP_001356065.1:p.Glu462GlyfsTer?
NM_001369137.1:c.1384dup NP_001356066.1:p.Glu462GlyfsTer?
NM_001369138.1:c.1384dup NP_001356067.1:p.Glu462GlyfsTer?
NM_001369139.1:c.1384dup NP_001356068.1:p.Glu462GlyfsTer?
NM_001369146.1:c.1208-3661dup NP_001356075.1:n.1208-3661dup
NM_001369148.1:c.805dup NP_001356077.1:p.Glu269GlyfsTer?
NM_001369137.2:c.1384dup NP_001356066.1:p.Glu462GlyfsTer?
NM_001369138.2:c.1384dup NP_001356067.1:p.Glu462GlyfsTer?
NM_001369146.2:c.1208-3661dup NP_001356075.1:n.1208-3661dup
NM_001369148.2:c.805dup NP_001356077.1:p.Glu269GlyfsTer?