Canonical Allele Identifier: CA1718357

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs770826218
• ExAC: 2:74185339 G / A
• gnomAD v2: 2-74185339-G-A
• gnomAD v3: 2-73958212-G-A
• gnomAD v4: 2-73958212-G-A
• MyVariant Identifiers: chr2:g.74185339G>A (hg19) ; chr2:g.73958212G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958212G>A , CM000664.2:g.73958212G>A	GRCh38
NC_000002.11:g.74185339G>A , CM000664.1:g.74185339G>A	GRCh37
NC_000002.10:g.74038847G>A	NCBI36
NG_008044.1:g.36387G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.774G>A (DGUOK) MANE Select	ENSP00000264093.4:p.Glu258=
ENST00000264093.8:c.774G>A (DGUOK)	ENSP00000264093.4:p.Glu258=
ENST00000348222.3:c.510G>A (DGUOK)	ENSP00000306964.3:p.Glu170=
ENST00000418996.5:c.*127G>A (DGUOK)	ENSP00000408209.1:n.*127G>A
ENST00000462685.1:n.603G>A (DGUOK)
ENST00000489796.5:n.659G>A (DGUOK)
ENST00000629438.2:c.*391G>A (DGUOK)	ENSP00000487122.1:n.*391G>A
NM_080916.2:c.774G>A (DGUOK)	NP_550438.1:p.Glu258=
NM_080918.2:c.510G>A (DGUOK)	NP_550440.1:p.Glu170=
NR_104029.1:n.332-5C>T (DGUOK-AS1)
NR_104030.1:n.306-5C>T (DGUOK-AS1)
XM_005264173.2:c.483G>A (DGUOK)	XP_005264230.1:p.Glu161=
XM_005264174.1:c.483G>A (DGUOK)	XP_005264231.1:p.Glu161=
XM_011532647.1:c.756G>A (DGUOK)	XP_011530949.1:p.Glu252=
XM_011532648.1:c.465G>A (DGUOK)	XP_011530950.1:p.Glu155=
XR_244926.2:n.739G>A (DGUOK)
NM_001318859.1:c.492G>A (DGUOK)	NP_001305788.1:p.Glu164=
NM_001318860.1:c.483G>A (DGUOK)	NP_001305789.1:p.Glu161=
NM_001318861.1:c.483G>A (DGUOK)	NP_001305790.1:p.Glu161=
NM_001318862.1:c.465G>A (DGUOK)	NP_001305791.1:p.Glu155=
NM_001318863.1:c.465G>A (DGUOK)	NP_001305792.1:p.Glu155=
NR_134893.1:n.482G>A (DGUOK)
NR_134894.1:n.630G>A (DGUOK)
NR_134895.1:n.294G>A (DGUOK)
NR_134896.1:n.464G>A (DGUOK)
NR_134897.1:n.674G>A (DGUOK)
NR_134898.1:n.598G>A (DGUOK)
XM_011532647.2:c.756G>A (DGUOK)	XP_011530949.1:p.Glu252=
XM_024452739.1:c.483G>A (DGUOK)	XP_024308507.1:p.Glu161=
XR_001738656.1:n.710G>A (DGUOK)
XR_244926.3:n.741G>A (DGUOK)
NM_080916.3:c.774G>A (DGUOK) MANE Select	NP_550438.1:p.Glu258=
NM_001318859.2:c.492G>A (DGUOK)	NP_001305788.1:p.Glu164=
NM_001318860.2:c.483G>A (DGUOK)	NP_001305789.1:p.Glu161=
NM_001318861.2:c.483G>A (DGUOK)	NP_001305790.1:p.Glu161=
NM_001318862.2:c.465G>A (DGUOK)	NP_001305791.1:p.Glu155=
NM_001318863.2:c.465G>A (DGUOK)	NP_001305792.1:p.Glu155=
NM_080918.3:c.510G>A (DGUOK)	NP_550440.1:p.Glu170=
NR_134893.2:n.428G>A (DGUOK)
NR_134894.2:n.576G>A (DGUOK)
NR_134895.2:n.240G>A (DGUOK)
NR_134896.2:n.410G>A (DGUOK)
NR_134897.2:n.620G>A (DGUOK)
NR_134898.2:n.544G>A (DGUOK)