Canonical Allele Identifier: CA426797679

Gene: DGUOK DGUOK-AS1

Linked Data

• ClinVar Variation Id: 1012944
• ClinVar RCV Id: RCV001311195
• dbSNP Id: rs1255769917
• gnomAD v2: 2-74185336-T-C
• gnomAD v3: 2-73958209-T-C
• gnomAD v4: 2-73958209-T-C
• MyVariant Identifiers: chr2:g.74185336T>C (hg19) ; chr2:g.73958209T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958209T>C , CM000664.2:g.73958209T>C	GRCh38
NC_000002.11:g.74185336T>C , CM000664.1:g.74185336T>C	GRCh37
NC_000002.10:g.74038844T>C	NCBI36
NG_008044.1:g.36384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.771T>C (DGUOK) MANE Select	ENSP00000264093.4:p.Ser257=
ENST00000264093.8:c.771T>C (DGUOK)	ENSP00000264093.4:p.Ser257=
ENST00000348222.3:c.507T>C (DGUOK)	ENSP00000306964.3:p.Ser169=
ENST00000418996.5:c.*124T>C (DGUOK)	ENSP00000408209.1:n.*124T>C
ENST00000462685.1:n.600T>C (DGUOK)
ENST00000489796.5:n.656T>C (DGUOK)
ENST00000629438.2:c.*388T>C (DGUOK)	ENSP00000487122.1:n.*388T>C
NM_080916.2:c.771T>C (DGUOK)	NP_550438.1:p.Ser257=
NM_080918.2:c.507T>C (DGUOK)	NP_550440.1:p.Ser169=
NR_104029.1:n.332-2A>G (DGUOK-AS1)
NR_104030.1:n.306-2A>G (DGUOK-AS1)
XM_005264173.2:c.480T>C (DGUOK)	XP_005264230.1:p.Ser160=
XM_005264174.1:c.480T>C (DGUOK)	XP_005264231.1:p.Ser160=
XM_011532647.1:c.753T>C (DGUOK)	XP_011530949.1:p.Ser251=
XM_011532648.1:c.462T>C (DGUOK)	XP_011530950.1:p.Ser154=
XR_244926.2:n.736T>C (DGUOK)
NM_001318859.1:c.489T>C (DGUOK)	NP_001305788.1:p.Ser163=
NM_001318860.1:c.480T>C (DGUOK)	NP_001305789.1:p.Ser160=
NM_001318861.1:c.480T>C (DGUOK)	NP_001305790.1:p.Ser160=
NM_001318862.1:c.462T>C (DGUOK)	NP_001305791.1:p.Ser154=
NM_001318863.1:c.462T>C (DGUOK)	NP_001305792.1:p.Ser154=
NR_134893.1:n.479T>C (DGUOK)
NR_134894.1:n.627T>C (DGUOK)
NR_134895.1:n.291T>C (DGUOK)
NR_134896.1:n.461T>C (DGUOK)
NR_134897.1:n.671T>C (DGUOK)
NR_134898.1:n.595T>C (DGUOK)
XM_011532647.2:c.753T>C (DGUOK)	XP_011530949.1:p.Ser251=
XM_024452739.1:c.480T>C (DGUOK)	XP_024308507.1:p.Ser160=
XR_001738656.1:n.707T>C (DGUOK)
XR_244926.3:n.738T>C (DGUOK)
NM_080916.3:c.771T>C (DGUOK) MANE Select	NP_550438.1:p.Ser257=
NM_001318859.2:c.489T>C (DGUOK)	NP_001305788.1:p.Ser163=
NM_001318860.2:c.480T>C (DGUOK)	NP_001305789.1:p.Ser160=
NM_001318861.2:c.480T>C (DGUOK)	NP_001305790.1:p.Ser160=
NM_001318862.2:c.462T>C (DGUOK)	NP_001305791.1:p.Ser154=
NM_001318863.2:c.462T>C (DGUOK)	NP_001305792.1:p.Ser154=
NM_080918.3:c.507T>C (DGUOK)	NP_550440.1:p.Ser169=
NR_134893.2:n.425T>C (DGUOK)
NR_134894.2:n.573T>C (DGUOK)
NR_134895.2:n.237T>C (DGUOK)
NR_134896.2:n.407T>C (DGUOK)
NR_134897.2:n.617T>C (DGUOK)
NR_134898.2:n.541T>C (DGUOK)