Canonical Allele Identifier: CA1718134

Gene: DGUOK

Linked Data

• ClinVar Variation Id: 523554
• ClinVar RCV Id: RCV000626989 ; RCV001199235 ; RCV002529801
• dbSNP Id: rs757962437
• ExAC: 2:74154102 C / T
• gnomAD v2: 2-74154102-C-T
• gnomAD v4: 2-73926975-C-T
• MyVariant Identifiers: chr2:g.74154102C>T (hg19) ; chr2:g.73926975C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73926975C>T , CM000664.2:g.73926975C>T	GRCh38
NC_000002.11:g.74154102C>T , CM000664.1:g.74154102C>T	GRCh37
NC_000002.10:g.74007610C>T	NCBI36
NG_008044.1:g.5150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.65C>T MANE Select	ENSP00000264093.4:p.Pro22Leu
ENST00000264093.8:c.65C>T	ENSP00000264093.4:p.Pro22Leu
ENST00000348222.3:c.65C>T	ENSP00000306964.3:p.Pro22Leu
ENST00000418996.5:c.65C>T	ENSP00000408209.1:p.Pro22Leu
ENST00000462551.1:n.83C>T
ENST00000462685.1:n.79C>T
ENST00000489796.5:n.82C>T
ENST00000493055.1:n.68C>T
ENST00000629438.2:c.65C>T	ENSP00000487122.1:p.Pro22Leu
NM_080916.2:c.65C>T	NP_550438.1:p.Pro22Leu
NM_080918.2:c.65C>T	NP_550440.1:p.Pro22Leu
XM_005264173.2:c.-114C>T	XP_005264230.1:n.-114C>T
XM_005264174.1:c.-200C>T	XP_005264231.1:n.-200C>T
XM_011532647.1:c.65C>T	XP_011530949.1:p.Pro22Leu
XM_011532648.1:c.-200C>T	XP_011530950.1:n.-200C>T
XR_244926.2:n.146C>T
NM_001318859.1:c.65C>T	NP_001305788.1:p.Pro22Leu
NM_001318860.1:c.-114C>T	NP_001305789.1:n.-114C>T
NM_001318861.1:c.-200C>T	NP_001305790.1:n.-200C>T
NM_001318862.1:c.-200C>T	NP_001305791.1:n.-200C>T
NM_001318863.1:c.-114C>T	NP_001305792.1:n.-114C>T
NR_134893.1:n.150C>T
NR_134894.1:n.150C>T
NR_134895.1:n.150C>T
NR_134896.1:n.150C>T
NR_134897.1:n.150C>T
NR_134898.1:n.150C>T
XM_011532647.2:c.65C>T	XP_011530949.1:p.Pro22Leu
XM_024452739.1:c.-313C>T	XP_024308507.1:n.-313C>T
XR_001738656.1:n.149C>T
XR_244926.3:n.148C>T
NM_080916.3:c.65C>T MANE Select	NP_550438.1:p.Pro22Leu
NM_001318859.2:c.65C>T	NP_001305788.1:p.Pro22Leu
NM_001318860.2:c.-114C>T	NP_001305789.1:n.-114C>T
NM_001318861.2:c.-200C>T	NP_001305790.1:n.-200C>T
NM_001318862.2:c.-200C>T	NP_001305791.1:n.-200C>T
NM_001318863.2:c.-114C>T	NP_001305792.1:n.-114C>T
NM_080918.3:c.65C>T	NP_550440.1:p.Pro22Leu
NR_134893.2:n.96C>T
NR_134894.2:n.96C>T
NR_134895.2:n.96C>T
NR_134896.2:n.96C>T
NR_134897.2:n.96C>T
NR_134898.2:n.96C>T