Canonical Allele Identifier: CA426797667

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs1243104770
• gnomAD v2: 2-74185313-T-C
• gnomAD v4: 2-73958186-T-C
• MyVariant Identifiers: chr2:g.74185313T>C (hg19) ; chr2:g.73958186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958186T>C , CM000664.2:g.73958186T>C	GRCh38
NC_000002.11:g.74185313T>C , CM000664.1:g.74185313T>C	GRCh37
NC_000002.10:g.74038821T>C	NCBI36
NG_008044.1:g.36361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.748T>C (DGUOK) MANE Select	ENSP00000264093.4:p.Leu250=
ENST00000264093.8:c.748T>C (DGUOK)	ENSP00000264093.4:p.Leu250=
ENST00000348222.3:c.484T>C (DGUOK)	ENSP00000306964.3:p.Leu162=
ENST00000418996.5:c.*101T>C (DGUOK)	ENSP00000408209.1:n.*101T>C
ENST00000462685.1:n.577T>C (DGUOK)
ENST00000489796.5:n.633T>C (DGUOK)
ENST00000629438.2:c.*365T>C (DGUOK)	ENSP00000487122.1:n.*365T>C
NM_080916.2:c.748T>C (DGUOK)	NP_550438.1:p.Leu250=
NM_080918.2:c.484T>C (DGUOK)	NP_550440.1:p.Leu162=
NR_104029.1:n.353A>G (DGUOK-AS1)
NR_104030.1:n.327A>G (DGUOK-AS1)
XM_005264173.2:c.457T>C (DGUOK)	XP_005264230.1:p.Leu153=
XM_005264174.1:c.457T>C (DGUOK)	XP_005264231.1:p.Leu153=
XM_011532647.1:c.730T>C (DGUOK)	XP_011530949.1:p.Leu244=
XM_011532648.1:c.439T>C (DGUOK)	XP_011530950.1:p.Leu147=
XR_244926.2:n.713T>C (DGUOK)
NM_001318859.1:c.466T>C (DGUOK)	NP_001305788.1:p.Leu156=
NM_001318860.1:c.457T>C (DGUOK)	NP_001305789.1:p.Leu153=
NM_001318861.1:c.457T>C (DGUOK)	NP_001305790.1:p.Leu153=
NM_001318862.1:c.439T>C (DGUOK)	NP_001305791.1:p.Leu147=
NM_001318863.1:c.439T>C (DGUOK)	NP_001305792.1:p.Leu147=
NR_134893.1:n.456T>C (DGUOK)
NR_134894.1:n.604T>C (DGUOK)
NR_134895.1:n.268T>C (DGUOK)
NR_134896.1:n.438T>C (DGUOK)
NR_134897.1:n.648T>C (DGUOK)
NR_134898.1:n.572T>C (DGUOK)
XM_011532647.2:c.730T>C (DGUOK)	XP_011530949.1:p.Leu244=
XM_024452739.1:c.457T>C (DGUOK)	XP_024308507.1:p.Leu153=
XR_001738656.1:n.684T>C (DGUOK)
XR_244926.3:n.715T>C (DGUOK)
NM_080916.3:c.748T>C (DGUOK) MANE Select	NP_550438.1:p.Leu250=
NM_001318859.2:c.466T>C (DGUOK)	NP_001305788.1:p.Leu156=
NM_001318860.2:c.457T>C (DGUOK)	NP_001305789.1:p.Leu153=
NM_001318861.2:c.457T>C (DGUOK)	NP_001305790.1:p.Leu153=
NM_001318862.2:c.439T>C (DGUOK)	NP_001305791.1:p.Leu147=
NM_001318863.2:c.439T>C (DGUOK)	NP_001305792.1:p.Leu147=
NM_080918.3:c.484T>C (DGUOK)	NP_550440.1:p.Leu162=
NR_134893.2:n.402T>C (DGUOK)
NR_134894.2:n.550T>C (DGUOK)
NR_134895.2:n.214T>C (DGUOK)
NR_134896.2:n.384T>C (DGUOK)
NR_134897.2:n.594T>C (DGUOK)
NR_134898.2:n.518T>C (DGUOK)