Canonical Allele Identifier: CA347301951

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs1558670787
• gnomAD v2: 2-74185325-G-A
• gnomAD v3: 2-73958198-G-A
• gnomAD v4: 2-73958198-G-A
• MyVariant Identifiers: chr2:g.74185325G>A (hg19) ; chr2:g.74185325_74185327delinsAAT (hg19) ; chr2:g.73958198G>A (hg38) ; chr2:g.73958198_73958200delinsAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958198G>A , CM000664.2:g.73958198G>A	GRCh38
NC_000002.11:g.74185325G>A , CM000664.1:g.74185325G>A	GRCh37
NC_000002.10:g.74038833G>A	NCBI36
NG_008044.1:g.36373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.760G>A (DGUOK) MANE Select	ENSP00000264093.4:p.Asp254Asn
ENST00000264093.8:c.760G>A (DGUOK)	ENSP00000264093.4:p.Asp254Asn
ENST00000348222.3:c.496G>A (DGUOK)	ENSP00000306964.3:p.Asp166Asn
ENST00000418996.5:c.*113G>A (DGUOK)	ENSP00000408209.1:n.*113G>A
ENST00000462685.1:n.589G>A (DGUOK)
ENST00000489796.5:n.645G>A (DGUOK)
ENST00000629438.2:c.*377G>A (DGUOK)	ENSP00000487122.1:n.*377G>A
NM_080916.2:c.760G>A (DGUOK)	NP_550438.1:p.Asp254Asn
NM_080918.2:c.496G>A (DGUOK)	NP_550440.1:p.Asp166Asn
NR_104029.1:n.341C>T (DGUOK-AS1)
NR_104030.1:n.315C>T (DGUOK-AS1)
XM_005264173.2:c.469G>A (DGUOK)	XP_005264230.1:p.Asp157Asn
XM_005264174.1:c.469G>A (DGUOK)	XP_005264231.1:p.Asp157Asn
XM_011532647.1:c.742G>A (DGUOK)	XP_011530949.1:p.Asp248Asn
XM_011532648.1:c.451G>A (DGUOK)	XP_011530950.1:p.Asp151Asn
XR_244926.2:n.725G>A (DGUOK)
NM_001318859.1:c.478G>A (DGUOK)	NP_001305788.1:p.Asp160Asn
NM_001318860.1:c.469G>A (DGUOK)	NP_001305789.1:p.Asp157Asn
NM_001318861.1:c.469G>A (DGUOK)	NP_001305790.1:p.Asp157Asn
NM_001318862.1:c.451G>A (DGUOK)	NP_001305791.1:p.Asp151Asn
NM_001318863.1:c.451G>A (DGUOK)	NP_001305792.1:p.Asp151Asn
NR_134893.1:n.468G>A (DGUOK)
NR_134894.1:n.616G>A (DGUOK)
NR_134895.1:n.280G>A (DGUOK)
NR_134896.1:n.450G>A (DGUOK)
NR_134897.1:n.660G>A (DGUOK)
NR_134898.1:n.584G>A (DGUOK)
XM_011532647.2:c.742G>A (DGUOK)	XP_011530949.1:p.Asp248Asn
XM_024452739.1:c.469G>A (DGUOK)	XP_024308507.1:p.Asp157Asn
XR_001738656.1:n.696G>A (DGUOK)
XR_244926.3:n.727G>A (DGUOK)
NM_080916.3:c.760G>A (DGUOK) MANE Select	NP_550438.1:p.Asp254Asn
NM_001318859.2:c.478G>A (DGUOK)	NP_001305788.1:p.Asp160Asn
NM_001318860.2:c.469G>A (DGUOK)	NP_001305789.1:p.Asp157Asn
NM_001318861.2:c.469G>A (DGUOK)	NP_001305790.1:p.Asp157Asn
NM_001318862.2:c.451G>A (DGUOK)	NP_001305791.1:p.Asp151Asn
NM_001318863.2:c.451G>A (DGUOK)	NP_001305792.1:p.Asp151Asn
NM_080918.3:c.496G>A (DGUOK)	NP_550440.1:p.Asp166Asn
NR_134893.2:n.414G>A (DGUOK)
NR_134894.2:n.562G>A (DGUOK)
NR_134895.2:n.226G>A (DGUOK)
NR_134896.2:n.396G>A (DGUOK)
NR_134897.2:n.606G>A (DGUOK)
NR_134898.2:n.530G>A (DGUOK)