Canonical Allele Identifier: CA347302118

Gene: DGUOK DGUOK-AS1

Linked Data

• ClinVar Variation Id: 2004480
• ClinVar RCV Id: RCV002816125
• MyVariant Identifiers: chr2:g.74185856A>C (hg19) ; chr2:g.73958729A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958729A>C , CM000664.2:g.73958729A>C	GRCh38
NC_000002.11:g.74185856A>C , CM000664.1:g.74185856A>C	GRCh37
NC_000002.10:g.74039364A>C	NCBI36
NG_008044.1:g.36904A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.827A>C (DGUOK) MANE Select	ENSP00000264093.4:p.Asn276Thr
ENST00000264093.8:c.827A>C (DGUOK)	ENSP00000264093.4:p.Asn276Thr
ENST00000348222.3:c.563A>C (DGUOK)	ENSP00000306964.3:p.Asn188Thr
ENST00000418996.5:c.*180A>C (DGUOK)	ENSP00000408209.1:n.*180A>C
ENST00000462685.1:n.656A>C (DGUOK)
ENST00000629438.2:c.*444A>C (DGUOK)	ENSP00000487122.1:n.*444A>C
NM_080916.2:c.827A>C (DGUOK)	NP_550438.1:p.Asn276Thr
NM_080918.2:c.563A>C (DGUOK)	NP_550440.1:p.Asn188Thr
NR_104029.1:n.332-522T>G (DGUOK-AS1)
NR_104030.1:n.306-522T>G (DGUOK-AS1)
XM_005264173.2:c.536A>C (DGUOK)	XP_005264230.1:p.Asn179Thr
XM_005264174.1:c.536A>C (DGUOK)	XP_005264231.1:p.Asn179Thr
XM_011532647.1:c.809A>C (DGUOK)	XP_011530949.1:p.Asn270Thr
XM_011532648.1:c.518A>C (DGUOK)	XP_011530950.1:p.Asn173Thr
XR_244926.2:n.792A>C (DGUOK)
NM_001318859.1:c.545A>C (DGUOK)	NP_001305788.1:p.Asn182Thr
NM_001318860.1:c.536A>C (DGUOK)	NP_001305789.1:p.Asn179Thr
NM_001318861.1:c.536A>C (DGUOK)	NP_001305790.1:p.Asn179Thr
NM_001318862.1:c.518A>C (DGUOK)	NP_001305791.1:p.Asn173Thr
NM_001318863.1:c.518A>C (DGUOK)	NP_001305792.1:p.Asn173Thr
NR_134893.1:n.535A>C (DGUOK)
NR_134894.1:n.683A>C (DGUOK)
NR_134895.1:n.347A>C (DGUOK)
NR_134896.1:n.517A>C (DGUOK)
NR_134897.1:n.727A>C (DGUOK)
NR_134898.1:n.651A>C (DGUOK)
XM_011532647.2:c.809A>C (DGUOK)	XP_011530949.1:p.Asn270Thr
XM_024452739.1:c.536A>C (DGUOK)	XP_024308507.1:p.Asn179Thr
XR_001738656.1:n.763A>C (DGUOK)
XR_244926.3:n.794A>C (DGUOK)
NM_080916.3:c.827A>C (DGUOK) MANE Select	NP_550438.1:p.Asn276Thr
NM_001318859.2:c.545A>C (DGUOK)	NP_001305788.1:p.Asn182Thr
NM_001318860.2:c.536A>C (DGUOK)	NP_001305789.1:p.Asn179Thr
NM_001318861.2:c.536A>C (DGUOK)	NP_001305790.1:p.Asn179Thr
NM_001318862.2:c.518A>C (DGUOK)	NP_001305791.1:p.Asn173Thr
NM_001318863.2:c.518A>C (DGUOK)	NP_001305792.1:p.Asn173Thr
NM_080918.3:c.563A>C (DGUOK)	NP_550440.1:p.Asn188Thr
NR_134893.2:n.481A>C (DGUOK)
NR_134894.2:n.629A>C (DGUOK)
NR_134895.2:n.293A>C (DGUOK)
NR_134896.2:n.463A>C (DGUOK)
NR_134897.2:n.673A>C (DGUOK)
NR_134898.2:n.597A>C (DGUOK)