Canonical Allele Identifier: CA426797653

Gene: DGUOK DGUOK-AS1

Linked Data

• ClinVar Variation Id: 2755115
• ClinVar RCV Id: RCV003564186
• MyVariant Identifiers: chr2:g.74185300T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958173T>C , CM000664.2:g.73958173T>C	GRCh38
NC_000002.11:g.74185300T>C , CM000664.1:g.74185300T>C	GRCh37
NC_000002.10:g.74038808T>C	NCBI36
NG_008044.1:g.36348T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.735T>C (DGUOK) MANE Select	ENSP00000264093.4:p.Ile245=
ENST00000264093.8:c.735T>C (DGUOK)	ENSP00000264093.4:p.Ile245=
ENST00000348222.3:c.471T>C (DGUOK)	ENSP00000306964.3:p.Ile157=
ENST00000418996.5:c.*88T>C (DGUOK)	ENSP00000408209.1:n.*88T>C
ENST00000462685.1:n.564T>C (DGUOK)
ENST00000489796.5:n.620T>C (DGUOK)
ENST00000629438.2:c.*352T>C (DGUOK)	ENSP00000487122.1:n.*352T>C
NM_080916.2:c.735T>C (DGUOK)	NP_550438.1:p.Ile245=
NM_080918.2:c.471T>C (DGUOK)	NP_550440.1:p.Ile157=
NR_104029.1:n.366A>G (DGUOK-AS1)
NR_104030.1:n.340A>G (DGUOK-AS1)
XM_005264173.2:c.444T>C (DGUOK)	XP_005264230.1:p.Ile148=
XM_005264174.1:c.444T>C (DGUOK)	XP_005264231.1:p.Ile148=
XM_011532647.1:c.717T>C (DGUOK)	XP_011530949.1:p.Ile239=
XM_011532648.1:c.426T>C (DGUOK)	XP_011530950.1:p.Ile142=
XR_244926.2:n.700T>C (DGUOK)
NM_001318859.1:c.453T>C (DGUOK)	NP_001305788.1:p.Ile151=
NM_001318860.1:c.444T>C (DGUOK)	NP_001305789.1:p.Ile148=
NM_001318861.1:c.444T>C (DGUOK)	NP_001305790.1:p.Ile148=
NM_001318862.1:c.426T>C (DGUOK)	NP_001305791.1:p.Ile142=
NM_001318863.1:c.426T>C (DGUOK)	NP_001305792.1:p.Ile142=
NR_134893.1:n.443T>C (DGUOK)
NR_134894.1:n.591T>C (DGUOK)
NR_134895.1:n.255T>C (DGUOK)
NR_134896.1:n.425T>C (DGUOK)
NR_134897.1:n.635T>C (DGUOK)
NR_134898.1:n.559T>C (DGUOK)
XM_011532647.2:c.717T>C (DGUOK)	XP_011530949.1:p.Ile239=
XM_024452739.1:c.444T>C (DGUOK)	XP_024308507.1:p.Ile148=
XR_001738656.1:n.671T>C (DGUOK)
XR_244926.3:n.702T>C (DGUOK)
NM_080916.3:c.735T>C (DGUOK) MANE Select	NP_550438.1:p.Ile245=
NM_001318859.2:c.453T>C (DGUOK)	NP_001305788.1:p.Ile151=
NM_001318860.2:c.444T>C (DGUOK)	NP_001305789.1:p.Ile148=
NM_001318861.2:c.444T>C (DGUOK)	NP_001305790.1:p.Ile148=
NM_001318862.2:c.426T>C (DGUOK)	NP_001305791.1:p.Ile142=
NM_001318863.2:c.426T>C (DGUOK)	NP_001305792.1:p.Ile142=
NM_080918.3:c.471T>C (DGUOK)	NP_550440.1:p.Ile157=
NR_134893.2:n.389T>C (DGUOK)
NR_134894.2:n.537T>C (DGUOK)
NR_134895.2:n.201T>C (DGUOK)
NR_134896.2:n.371T>C (DGUOK)
NR_134897.2:n.581T>C (DGUOK)
NR_134898.2:n.505T>C (DGUOK)