Canonical Allele Identifier: CA347301928

Gene: DGUOK DGUOK-AS1

Linked Data

• MyVariant Identifiers: chr2:g.74185314T>G (hg19) ; chr2:g.73958187T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958187T>G , CM000664.2:g.73958187T>G	GRCh38
NC_000002.11:g.74185314T>G , CM000664.1:g.74185314T>G	GRCh37
NC_000002.10:g.74038822T>G	NCBI36
NG_008044.1:g.36362T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.749T>G (DGUOK) MANE Select	ENSP00000264093.4:p.Leu250Trp
ENST00000264093.8:c.749T>G (DGUOK)	ENSP00000264093.4:p.Leu250Trp
ENST00000348222.3:c.485T>G (DGUOK)	ENSP00000306964.3:p.Leu162Trp
ENST00000418996.5:c.*102T>G (DGUOK)	ENSP00000408209.1:n.*102T>G
ENST00000462685.1:n.578T>G (DGUOK)
ENST00000489796.5:n.634T>G (DGUOK)
ENST00000629438.2:c.*366T>G (DGUOK)	ENSP00000487122.1:n.*366T>G
NM_080916.2:c.749T>G (DGUOK)	NP_550438.1:p.Leu250Trp
NM_080918.2:c.485T>G (DGUOK)	NP_550440.1:p.Leu162Trp
NR_104029.1:n.352A>C (DGUOK-AS1)
NR_104030.1:n.326A>C (DGUOK-AS1)
XM_005264173.2:c.458T>G (DGUOK)	XP_005264230.1:p.Leu153Trp
XM_005264174.1:c.458T>G (DGUOK)	XP_005264231.1:p.Leu153Trp
XM_011532647.1:c.731T>G (DGUOK)	XP_011530949.1:p.Leu244Trp
XM_011532648.1:c.440T>G (DGUOK)	XP_011530950.1:p.Leu147Trp
XR_244926.2:n.714T>G (DGUOK)
NM_001318859.1:c.467T>G (DGUOK)	NP_001305788.1:p.Leu156Trp
NM_001318860.1:c.458T>G (DGUOK)	NP_001305789.1:p.Leu153Trp
NM_001318861.1:c.458T>G (DGUOK)	NP_001305790.1:p.Leu153Trp
NM_001318862.1:c.440T>G (DGUOK)	NP_001305791.1:p.Leu147Trp
NM_001318863.1:c.440T>G (DGUOK)	NP_001305792.1:p.Leu147Trp
NR_134893.1:n.457T>G (DGUOK)
NR_134894.1:n.605T>G (DGUOK)
NR_134895.1:n.269T>G (DGUOK)
NR_134896.1:n.439T>G (DGUOK)
NR_134897.1:n.649T>G (DGUOK)
NR_134898.1:n.573T>G (DGUOK)
XM_011532647.2:c.731T>G (DGUOK)	XP_011530949.1:p.Leu244Trp
XM_024452739.1:c.458T>G (DGUOK)	XP_024308507.1:p.Leu153Trp
XR_001738656.1:n.685T>G (DGUOK)
XR_244926.3:n.716T>G (DGUOK)
NM_080916.3:c.749T>G (DGUOK) MANE Select	NP_550438.1:p.Leu250Trp
NM_001318859.2:c.467T>G (DGUOK)	NP_001305788.1:p.Leu156Trp
NM_001318860.2:c.458T>G (DGUOK)	NP_001305789.1:p.Leu153Trp
NM_001318861.2:c.458T>G (DGUOK)	NP_001305790.1:p.Leu153Trp
NM_001318862.2:c.440T>G (DGUOK)	NP_001305791.1:p.Leu147Trp
NM_001318863.2:c.440T>G (DGUOK)	NP_001305792.1:p.Leu147Trp
NM_080918.3:c.485T>G (DGUOK)	NP_550440.1:p.Leu162Trp
NR_134893.2:n.403T>G (DGUOK)
NR_134894.2:n.551T>G (DGUOK)
NR_134895.2:n.215T>G (DGUOK)
NR_134896.2:n.385T>G (DGUOK)
NR_134897.2:n.595T>G (DGUOK)
NR_134898.2:n.519T>G (DGUOK)