Canonical Allele Identifier: CA1718348

Gene: DGUOK DGUOK-AS1

Linked Data

• ClinVar Variation Id: 2203106
• ClinVar RCV Id: RCV002651488
• dbSNP Id: rs780483507
• ExAC: 2:74185302 C / G
• gnomAD v2: 2-74185302-C-G
• gnomAD v4: 2-73958175-C-G
• MyVariant Identifiers: chr2:g.74185302C>G (hg19) ; chr2:g.73958175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958175C>G , CM000664.2:g.73958175C>G	GRCh38
NC_000002.11:g.74185302C>G , CM000664.1:g.74185302C>G	GRCh37
NC_000002.10:g.74038810C>G	NCBI36
NG_008044.1:g.36350C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.737C>G (DGUOK) MANE Select	ENSP00000264093.4:p.Pro246Arg
ENST00000264093.8:c.737C>G (DGUOK)	ENSP00000264093.4:p.Pro246Arg
ENST00000348222.3:c.473C>G (DGUOK)	ENSP00000306964.3:p.Pro158Arg
ENST00000418996.5:c.*90C>G (DGUOK)	ENSP00000408209.1:n.*90C>G
ENST00000462685.1:n.566C>G (DGUOK)
ENST00000489796.5:n.622C>G (DGUOK)
ENST00000629438.2:c.*354C>G (DGUOK)	ENSP00000487122.1:n.*354C>G
NM_080916.2:c.737C>G (DGUOK)	NP_550438.1:p.Pro246Arg
NM_080918.2:c.473C>G (DGUOK)	NP_550440.1:p.Pro158Arg
NR_104029.1:n.364G>C (DGUOK-AS1)
NR_104030.1:n.338G>C (DGUOK-AS1)
XM_005264173.2:c.446C>G (DGUOK)	XP_005264230.1:p.Pro149Arg
XM_005264174.1:c.446C>G (DGUOK)	XP_005264231.1:p.Pro149Arg
XM_011532647.1:c.719C>G (DGUOK)	XP_011530949.1:p.Pro240Arg
XM_011532648.1:c.428C>G (DGUOK)	XP_011530950.1:p.Pro143Arg
XR_244926.2:n.702C>G (DGUOK)
NM_001318859.1:c.455C>G (DGUOK)	NP_001305788.1:p.Pro152Arg
NM_001318860.1:c.446C>G (DGUOK)	NP_001305789.1:p.Pro149Arg
NM_001318861.1:c.446C>G (DGUOK)	NP_001305790.1:p.Pro149Arg
NM_001318862.1:c.428C>G (DGUOK)	NP_001305791.1:p.Pro143Arg
NM_001318863.1:c.428C>G (DGUOK)	NP_001305792.1:p.Pro143Arg
NR_134893.1:n.445C>G (DGUOK)
NR_134894.1:n.593C>G (DGUOK)
NR_134895.1:n.257C>G (DGUOK)
NR_134896.1:n.427C>G (DGUOK)
NR_134897.1:n.637C>G (DGUOK)
NR_134898.1:n.561C>G (DGUOK)
XM_011532647.2:c.719C>G (DGUOK)	XP_011530949.1:p.Pro240Arg
XM_024452739.1:c.446C>G (DGUOK)	XP_024308507.1:p.Pro149Arg
XR_001738656.1:n.673C>G (DGUOK)
XR_244926.3:n.704C>G (DGUOK)
NM_080916.3:c.737C>G (DGUOK) MANE Select	NP_550438.1:p.Pro246Arg
NM_001318859.2:c.455C>G (DGUOK)	NP_001305788.1:p.Pro152Arg
NM_001318860.2:c.446C>G (DGUOK)	NP_001305789.1:p.Pro149Arg
NM_001318861.2:c.446C>G (DGUOK)	NP_001305790.1:p.Pro149Arg
NM_001318862.2:c.428C>G (DGUOK)	NP_001305791.1:p.Pro143Arg
NM_001318863.2:c.428C>G (DGUOK)	NP_001305792.1:p.Pro143Arg
NM_080918.3:c.473C>G (DGUOK)	NP_550440.1:p.Pro158Arg
NR_134893.2:n.391C>G (DGUOK)
NR_134894.2:n.539C>G (DGUOK)
NR_134895.2:n.203C>G (DGUOK)
NR_134896.2:n.373C>G (DGUOK)
NR_134897.2:n.583C>G (DGUOK)
NR_134898.2:n.507C>G (DGUOK)