Canonical Allele Identifier: CA892905516

Gene: DGUOK

Linked Data

• dbSNP Id: rs1213032955
• gnomAD v3: 2-73957853-C-T
• gnomAD v4: 2-73957853-C-T
• MyVariant Identifiers: chr2:g.74184980C>T (hg19) ; chr2:g.73957853C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73957853C>T , CM000664.2:g.73957853C>T	GRCh38
NC_000002.11:g.74184980C>T , CM000664.1:g.74184980C>T	GRCh37
NC_000002.10:g.74038488C>T	NCBI36
NG_008044.1:g.36028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.708-293C>T MANE Select	ENSP00000264093.4:n.708-293C>T
ENST00000264093.8:c.708-293C>T	ENSP00000264093.4:n.708-293C>T
ENST00000348222.3:c.444-293C>T	ENSP00000306964.3:n.444-293C>T
ENST00000418996.5:c.*61-293C>T	ENSP00000408209.1:n.*61-293C>T
ENST00000462685.1:n.537-293C>T
ENST00000489796.5:n.593-293C>T
ENST00000629438.2:c.*325-293C>T	ENSP00000487122.1:n.*325-293C>T
NM_080916.2:c.708-293C>T	NP_550438.1:n.708-293C>T
NM_080918.2:c.444-293C>T	NP_550440.1:n.444-293C>T
XM_005264173.2:c.417-293C>T	XP_005264230.1:n.417-293C>T
XM_005264174.1:c.417-293C>T	XP_005264231.1:n.417-293C>T
XM_011532647.1:c.690-293C>T	XP_011530949.1:n.690-293C>T
XM_011532648.1:c.399-293C>T	XP_011530950.1:n.399-293C>T
XR_244926.2:n.673-293C>T
NM_001318859.1:c.426-293C>T	NP_001305788.1:n.426-293C>T
NM_001318860.1:c.417-293C>T	NP_001305789.1:n.417-293C>T
NM_001318861.1:c.417-293C>T	NP_001305790.1:n.417-293C>T
NM_001318862.1:c.399-293C>T	NP_001305791.1:n.399-293C>T
NM_001318863.1:c.399-293C>T	NP_001305792.1:n.399-293C>T
NR_134893.1:n.416-293C>T
NR_134894.1:n.564-293C>T
NR_134895.1:n.228-293C>T
NR_134896.1:n.398-293C>T
NR_134897.1:n.608-293C>T
NR_134898.1:n.532-293C>T
XM_011532647.2:c.690-293C>T	XP_011530949.1:n.690-293C>T
XM_024452739.1:c.417-293C>T	XP_024308507.1:n.417-293C>T
XR_001738656.1:n.644-293C>T
XR_244926.3:n.675-293C>T
NM_080916.3:c.708-293C>T MANE Select	NP_550438.1:n.708-293C>T
NM_001318859.2:c.426-293C>T	NP_001305788.1:n.426-293C>T
NM_001318860.2:c.417-293C>T	NP_001305789.1:n.417-293C>T
NM_001318861.2:c.417-293C>T	NP_001305790.1:n.417-293C>T
NM_001318862.2:c.399-293C>T	NP_001305791.1:n.399-293C>T
NM_001318863.2:c.399-293C>T	NP_001305792.1:n.399-293C>T
NM_080918.3:c.444-293C>T	NP_550440.1:n.444-293C>T
NR_134893.2:n.362-293C>T
NR_134894.2:n.510-293C>T
NR_134895.2:n.174-293C>T
NR_134896.2:n.344-293C>T
NR_134897.2:n.554-293C>T
NR_134898.2:n.478-293C>T