Canonical Allele Identifier: CA347302089

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs1159094248
• gnomAD v2: 2-74185843-A-C
• gnomAD v4: 2-73958716-A-C
• MyVariant Identifiers: chr2:g.74185843A>C (hg19) ; chr2:g.73958716A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958716A>C , CM000664.2:g.73958716A>C	GRCh38
NC_000002.11:g.74185843A>C , CM000664.1:g.74185843A>C	GRCh37
NC_000002.10:g.74039351A>C	NCBI36
NG_008044.1:g.36891A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.814A>C (DGUOK) MANE Select	ENSP00000264093.4:p.Thr272Pro
ENST00000264093.8:c.814A>C (DGUOK)	ENSP00000264093.4:p.Thr272Pro
ENST00000348222.3:c.550A>C (DGUOK)	ENSP00000306964.3:p.Thr184Pro
ENST00000418996.5:c.*167A>C (DGUOK)	ENSP00000408209.1:n.*167A>C
ENST00000462685.1:n.643A>C (DGUOK)
ENST00000629438.2:c.*431A>C (DGUOK)	ENSP00000487122.1:n.*431A>C
NM_080916.2:c.814A>C (DGUOK)	NP_550438.1:p.Thr272Pro
NM_080918.2:c.550A>C (DGUOK)	NP_550440.1:p.Thr184Pro
NR_104029.1:n.332-509T>G (DGUOK-AS1)
NR_104030.1:n.306-509T>G (DGUOK-AS1)
XM_005264173.2:c.523A>C (DGUOK)	XP_005264230.1:p.Thr175Pro
XM_005264174.1:c.523A>C (DGUOK)	XP_005264231.1:p.Thr175Pro
XM_011532647.1:c.796A>C (DGUOK)	XP_011530949.1:p.Thr266Pro
XM_011532648.1:c.505A>C (DGUOK)	XP_011530950.1:p.Thr169Pro
XR_244926.2:n.779A>C (DGUOK)
NM_001318859.1:c.532A>C (DGUOK)	NP_001305788.1:p.Thr178Pro
NM_001318860.1:c.523A>C (DGUOK)	NP_001305789.1:p.Thr175Pro
NM_001318861.1:c.523A>C (DGUOK)	NP_001305790.1:p.Thr175Pro
NM_001318862.1:c.505A>C (DGUOK)	NP_001305791.1:p.Thr169Pro
NM_001318863.1:c.505A>C (DGUOK)	NP_001305792.1:p.Thr169Pro
NR_134893.1:n.522A>C (DGUOK)
NR_134894.1:n.670A>C (DGUOK)
NR_134895.1:n.334A>C (DGUOK)
NR_134896.1:n.504A>C (DGUOK)
NR_134897.1:n.714A>C (DGUOK)
NR_134898.1:n.638A>C (DGUOK)
XM_011532647.2:c.796A>C (DGUOK)	XP_011530949.1:p.Thr266Pro
XM_024452739.1:c.523A>C (DGUOK)	XP_024308507.1:p.Thr175Pro
XR_001738656.1:n.750A>C (DGUOK)
XR_244926.3:n.781A>C (DGUOK)
NM_080916.3:c.814A>C (DGUOK) MANE Select	NP_550438.1:p.Thr272Pro
NM_001318859.2:c.532A>C (DGUOK)	NP_001305788.1:p.Thr178Pro
NM_001318860.2:c.523A>C (DGUOK)	NP_001305789.1:p.Thr175Pro
NM_001318861.2:c.523A>C (DGUOK)	NP_001305790.1:p.Thr175Pro
NM_001318862.2:c.505A>C (DGUOK)	NP_001305791.1:p.Thr169Pro
NM_001318863.2:c.505A>C (DGUOK)	NP_001305792.1:p.Thr169Pro
NM_080918.3:c.550A>C (DGUOK)	NP_550440.1:p.Thr184Pro
NR_134893.2:n.468A>C (DGUOK)
NR_134894.2:n.616A>C (DGUOK)
NR_134895.2:n.280A>C (DGUOK)
NR_134896.2:n.450A>C (DGUOK)
NR_134897.2:n.660A>C (DGUOK)
NR_134898.2:n.584A>C (DGUOK)