Canonical Allele Identifier: CA1718216

Gene: DGUOK

Linked Data

• ClinVar Variation Id: 289982
• ClinVar RCV Id: RCV000726410 ; RCV003949943
• dbSNP Id: rs199531052
• ExAC: 2:74173839 C / T
• gnomAD v2: 2-74173839-C-T
• gnomAD v3: 2-73946712-C-T
• gnomAD v4: 2-73946712-C-T
• MyVariant Identifiers: chr2:g.74173839C>T (hg19) ; chr2:g.73946712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73946712C>T , CM000664.2:g.73946712C>T	GRCh38
NC_000002.11:g.74173839C>T , CM000664.1:g.74173839C>T	GRCh37
NC_000002.10:g.74027347C>T	NCBI36
NG_008044.1:g.24887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.256-7C>T MANE Select	ENSP00000264093.4:n.256-7C>T
ENST00000264093.8:c.256-7C>T	ENSP00000264093.4:n.256-7C>T
ENST00000348222.3:c.256-7C>T	ENSP00000306964.3:n.256-7C>T
ENST00000418996.5:c.143-7C>T	ENSP00000408209.1:n.143-7C>T
ENST00000462551.1:n.161-7C>T
ENST00000462685.1:n.243-7C>T
ENST00000489796.5:n.273-7C>T
ENST00000493055.1:n.259-7C>T
ENST00000629438.2:c.143-7C>T	ENSP00000487122.1:n.143-7C>T
NM_080916.2:c.256-7C>T	NP_550438.1:n.256-7C>T
NM_080918.2:c.256-7C>T	NP_550440.1:n.256-7C>T
XM_005264173.2:c.-36-7C>T	XP_005264230.1:n.-36-7C>T
XM_005264174.1:c.-36-7C>T	XP_005264231.1:n.-36-7C>T
XM_011532647.1:c.256-7C>T	XP_011530949.1:n.256-7C>T
XM_011532648.1:c.-36-7C>T	XP_011530950.1:n.-36-7C>T
XR_244926.2:n.337-7C>T
NM_001318859.1:c.256-7C>T	NP_001305788.1:n.256-7C>T
NM_001318860.1:c.-36-7C>T	NP_001305789.1:n.-36-7C>T
NM_001318861.1:c.-36-7C>T	NP_001305790.1:n.-36-7C>T
NM_001318862.1:c.-36-7C>T	NP_001305791.1:n.-36-7C>T
NM_001318863.1:c.-36-7C>T	NP_001305792.1:n.-36-7C>T
NR_134893.1:n.228-7C>T
NR_134894.1:n.228-7C>T
NR_134895.1:n.228-11434C>T
NR_134896.1:n.228-7C>T
NR_134897.1:n.314-7C>T
NR_134898.1:n.228-7C>T
XM_011532647.2:c.256-7C>T	XP_011530949.1:n.256-7C>T
XM_024452739.1:c.-36-7C>T	XP_024308507.1:n.-36-7C>T
XR_001738656.1:n.340-7C>T
XR_244926.3:n.339-7C>T
NM_080916.3:c.256-7C>T MANE Select	NP_550438.1:n.256-7C>T
NM_001318859.2:c.256-7C>T	NP_001305788.1:n.256-7C>T
NM_001318860.2:c.-36-7C>T	NP_001305789.1:n.-36-7C>T
NM_001318861.2:c.-36-7C>T	NP_001305790.1:n.-36-7C>T
NM_001318862.2:c.-36-7C>T	NP_001305791.1:n.-36-7C>T
NM_001318863.2:c.-36-7C>T	NP_001305792.1:n.-36-7C>T
NM_080918.3:c.256-7C>T	NP_550440.1:n.256-7C>T
NR_134893.2:n.174-7C>T
NR_134894.2:n.174-7C>T
NR_134895.2:n.174-11434C>T
NR_134896.2:n.174-7C>T
NR_134897.2:n.260-7C>T
NR_134898.2:n.174-7C>T