Canonical Allele Identifier: CA50410814

Gene: DGUOK DGUOK-AS1

Linked Data

• ClinVar Variation Id: 2040263
• ClinVar RCV Id: RCV002912440
• dbSNP Id: rs989266462
• gnomAD v4: 2-73958234-C-T
• MyVariant Identifiers: chr2:g.74185361C>T (hg19) ; chr2:g.73958234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958234C>T , CM000664.2:g.73958234C>T	GRCh38
NC_000002.11:g.74185361C>T , CM000664.1:g.74185361C>T	GRCh37
NC_000002.10:g.74038869C>T	NCBI36
NG_008044.1:g.36409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.796C>T (DGUOK) MANE Select	ENSP00000264093.4:p.Leu266Phe
ENST00000264093.8:c.796C>T (DGUOK)	ENSP00000264093.4:p.Leu266Phe
ENST00000348222.3:c.532C>T (DGUOK)	ENSP00000306964.3:p.Leu178Phe
ENST00000418996.5:c.*149C>T (DGUOK)	ENSP00000408209.1:n.*149C>T
ENST00000462685.1:n.625C>T (DGUOK)
ENST00000489796.5:n.681C>T (DGUOK)
ENST00000629438.2:c.*413C>T (DGUOK)	ENSP00000487122.1:n.*413C>T
NM_080916.2:c.796C>T (DGUOK)	NP_550438.1:p.Leu266Phe
NM_080918.2:c.532C>T (DGUOK)	NP_550440.1:p.Leu178Phe
NR_104029.1:n.332-27G>A (DGUOK-AS1)
NR_104030.1:n.306-27G>A (DGUOK-AS1)
XM_005264173.2:c.505C>T (DGUOK)	XP_005264230.1:p.Leu169Phe
XM_005264174.1:c.505C>T (DGUOK)	XP_005264231.1:p.Leu169Phe
XM_011532647.1:c.778C>T (DGUOK)	XP_011530949.1:p.Leu260Phe
XM_011532648.1:c.487C>T (DGUOK)	XP_011530950.1:p.Leu163Phe
XR_244926.2:n.761C>T (DGUOK)
NM_001318859.1:c.514C>T (DGUOK)	NP_001305788.1:p.Leu172Phe
NM_001318860.1:c.505C>T (DGUOK)	NP_001305789.1:p.Leu169Phe
NM_001318861.1:c.505C>T (DGUOK)	NP_001305790.1:p.Leu169Phe
NM_001318862.1:c.487C>T (DGUOK)	NP_001305791.1:p.Leu163Phe
NM_001318863.1:c.487C>T (DGUOK)	NP_001305792.1:p.Leu163Phe
NR_134893.1:n.504C>T (DGUOK)
NR_134894.1:n.652C>T (DGUOK)
NR_134895.1:n.316C>T (DGUOK)
NR_134896.1:n.486C>T (DGUOK)
NR_134897.1:n.696C>T (DGUOK)
NR_134898.1:n.620C>T (DGUOK)
XM_011532647.2:c.778C>T (DGUOK)	XP_011530949.1:p.Leu260Phe
XM_024452739.1:c.505C>T (DGUOK)	XP_024308507.1:p.Leu169Phe
XR_001738656.1:n.732C>T (DGUOK)
XR_244926.3:n.763C>T (DGUOK)
NM_080916.3:c.796C>T (DGUOK) MANE Select	NP_550438.1:p.Leu266Phe
NM_001318859.2:c.514C>T (DGUOK)	NP_001305788.1:p.Leu172Phe
NM_001318860.2:c.505C>T (DGUOK)	NP_001305789.1:p.Leu169Phe
NM_001318861.2:c.505C>T (DGUOK)	NP_001305790.1:p.Leu169Phe
NM_001318862.2:c.487C>T (DGUOK)	NP_001305791.1:p.Leu163Phe
NM_001318863.2:c.487C>T (DGUOK)	NP_001305792.1:p.Leu163Phe
NM_080918.3:c.532C>T (DGUOK)	NP_550440.1:p.Leu178Phe
NR_134893.2:n.450C>T (DGUOK)
NR_134894.2:n.598C>T (DGUOK)
NR_134895.2:n.262C>T (DGUOK)
NR_134896.2:n.432C>T (DGUOK)
NR_134897.2:n.642C>T (DGUOK)
NR_134898.2:n.566C>T (DGUOK)