Canonical Allele Identifier: CA239004

Gene: DGUOK

Linked Data

• ClinVar Variation Id: 193482
• ClinVar RCV Id: RCV000173554 ; RCV000660620 ; RCV003975258
• dbSNP Id: rs147551003
• ExAC: 2:74154041 G / T
• gnomAD v2: 2-74154041-G-T
• gnomAD v3: 2-73926914-G-T
• gnomAD v4: 2-73926914-G-T
• MyVariant Identifiers: chr2:g.74154041G>T (hg19) ; chr2:g.73926914G>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73926914G>T , CM000664.2:g.73926914G>T	GRCh38
NC_000002.11:g.74154041G>T , CM000664.1:g.74154041G>T	GRCh37
NC_000002.10:g.74007549G>T	NCBI36
NG_008044.1:g.5089G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.4G>T MANE Select	ENSP00000264093.4:p.Ala2Ser
ENST00000264093.8:c.4G>T	ENSP00000264093.4:p.Ala2Ser
ENST00000348222.3:c.4G>T	ENSP00000306964.3:p.Ala2Ser
ENST00000418996.5:c.4G>T	ENSP00000408209.1:p.Ala2Ser
ENST00000462551.1:n.22G>T
ENST00000462685.1:n.18G>T
ENST00000489796.5:n.21G>T
ENST00000493055.1:n.7G>T
ENST00000629438.2:c.4G>T	ENSP00000487122.1:p.Ala2Ser
NM_080916.2:c.4G>T	NP_550438.1:p.Ala2Ser
NM_080918.2:c.4G>T	NP_550440.1:p.Ala2Ser
XM_005264173.2:c.-175G>T	XP_005264230.1:n.-175G>T
XM_011532647.1:c.4G>T	XP_011530949.1:p.Ala2Ser
XM_011532648.1:c.-261G>T	XP_011530950.1:n.-261G>T
XR_244926.2:n.85G>T
NM_001318859.1:c.4G>T	NP_001305788.1:p.Ala2Ser
NM_001318860.1:c.-175G>T	NP_001305789.1:n.-175G>T
NM_001318861.1:c.-261G>T	NP_001305790.1:n.-261G>T
NM_001318862.1:c.-261G>T	NP_001305791.1:n.-261G>T
NM_001318863.1:c.-175G>T	NP_001305792.1:n.-175G>T
NR_134893.1:n.89G>T
NR_134894.1:n.89G>T
NR_134895.1:n.89G>T
NR_134896.1:n.89G>T
NR_134897.1:n.89G>T
NR_134898.1:n.89G>T
XM_011532647.2:c.4G>T	XP_011530949.1:p.Ala2Ser
XM_024452739.1:c.-374G>T	XP_024308507.1:n.-374G>T
XR_001738656.1:n.88G>T
XR_244926.3:n.87G>T
NM_080916.3:c.4G>T MANE Select	NP_550438.1:p.Ala2Ser
NM_001318859.2:c.4G>T	NP_001305788.1:p.Ala2Ser
NM_001318860.2:c.-175G>T	NP_001305789.1:n.-175G>T
NM_001318861.2:c.-261G>T	NP_001305790.1:n.-261G>T
NM_001318862.2:c.-261G>T	NP_001305791.1:n.-261G>T
NM_001318863.2:c.-175G>T	NP_001305792.1:n.-175G>T
NM_080918.3:c.4G>T	NP_550440.1:p.Ala2Ser
NR_134893.2:n.35G>T
NR_134894.2:n.35G>T
NR_134895.2:n.35G>T
NR_134896.2:n.35G>T
NR_134897.2:n.35G>T
NR_134898.2:n.35G>T