Transcript #00023843

Transcript name transcript variant 2
Gene name GCNT2 (glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group))
Chromosome 6
Transcript - NCBI ID NM_001491.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001482.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

54 entries on 1 page. Showing entries 1 - 54.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-27439A>G r.(?) p.(=)
?/? _1 c.-27008G>A r.(=) p.(=)
?/? _1 c.-27008G>A r.(=) p.(=)
?/? _1 c.-27008G>A r.(=) p.(=)
?/? _1 c.-27008G>A r.(=) p.(=)
?/? _1 c.-27008G>A r.(=) p.(=)
?/? _1 c.-27008G>A r.(=) p.(=)
?/? _1 c.-27008G>A r.(=) p.(=)
?/? _1 c.-27008G>A - p.(=)
?/. - c.-26861G>A r.(?) p.(=)
?/? _1 c.-26830G>A r.(=) p.(=)
?/? _1 c.-26830G>A - p.(=)
-?/. - c.-26814C>T r.(?) p.(=)
?/? _1 c.-26697C>G r.(=) p.(=)
?/? _1 c.-26697C>G r.(=) p.(=)
?/? _1 c.-26697C>G - p.(=)
-?/. - c.254C>G r.(?) p.(Pro85Arg)
?/. - c.330G>A r.(=) p.(=)
-?/. - c.396T>C r.(?) p.(Thr132=)
?/. - c.476A>G r.(?) p.(Tyr159Cys)
-/. - c.517A>G r.(?) p.(Arg173Gly)
+?/. - c.552C>A r.(?) p.(Tyr184Ter)
?/. - c.758C>G r.(?) p.(Pro253Arg)
?/? 3i c.919+28890T>A r.(=) p.(=)
?/? 3i c.919+28890T>A r.(=) p.(=)
?/? 3i c.919+28890T>A - p.(=)
-/. - c.919+29182G>A r.(=) p.(=)
-/. - c.919+29463C>G r.(=) p.(=)
-?/. - c.919+29463C>G r.(=) p.(=)
-/. - c.919+29481A>G r.(=) p.(=)
+/? 4 c.977G>A r.(?) p.(Trp326*)
+/? 4 c.977G>A r.(?) p.(Trp326*)
+/? 4 c.977G>A r.(?) p.(Trp326*)
+/? 4 c.977G>A r.(?) p.(Trp326*)
+/? 4 c.977G>A r.(?) p.(Trp326*)
+/? 4 c.977G>A r.(?) p.(Trp326*)
+/? 4 c.977G>A r.(?) p.(Trp326*)
+/? 4 c.977G>A r.(?) p.(Trp326*)
?/? 4 c.1000G>A r.(?) p.(Gly334Arg)
?/? 4 c.1000G>A - p.(Gly334Arg)
?/? - c.1043G>A r.(?) p.(Gly348Glu)
?/? - c.1043G>A r.(?) p.(Gly348Glu)
?/? - c.1043G>A r.(?) p.(Gly348Glu)
?/? - c.1043G>A r.(?) p.(Gly348Glu)
?/? - c.1043G>A r.(?) p.(Gly348Glu)
?/? - c.1043G>A r.(?) p.(Gly348Glu)
+/? 5 c.1043G>A r.1043g>a p.Gly348Glu
?/? 5 c.1043G>A r.(?) p.(Gly348Glu)
?/? 5 c.1043G>A - p.(Gly348Glu)
?/. - c.1052A>T r.(?) p.(Asp351Val)
?/? - c.1148G>A r.(?) p.(Arg383His)
?/? - c.1148G>A r.(?) p.(Arg383His)
?/? - c.1148G>A r.(?) p.(Arg383His)
+/? 5 c.1148G>A r.1148g>a p.Arg383His
Legend