Transcript #00008417

Transcript name transcript variant 1
Gene name GCNT2 (glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group))
Chromosome 6
Transcript - NCBI ID NM_145649.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_663624.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.74A>G likely benign r.(?) p.(Asn25Ser)
-/? 4 c.505G>A - r.(?) p.(Ala169Thr)
+/? 3 c.505G>A - r.(?) p.(Ala169Thr)
+/? 3 c.505G>A - r.(?) p.(Ala169Thr)
+/? 3 c.505G>A - r.(?) p.(Ala169Thr)
+/? 3 c.505G>A - r.(?) p.(Ala169Thr)
+/? 3 c.505G>A - r.(?) p.(Ala169Thr)
+/? 3 c.505G>A - r.(?) p.(Ala169Thr)
+/? 3 c.505G>A - r.(?) p.(Ala169Thr)
+/? 3 c.505G>A - - p.Ala169Thr
+/? 3 c.683G>A - r.(?) p.(Arg228Gln)
+/? 3 c.683G>A - - p.Arg228Gln
-?/. - c.699C>T likely benign r.(?) p.(=)
-/? 3 c.816C>G - r.(?) p.(Asp272Glu)
-/? 3 c.816C>G - r.(?) p.(Asp272Glu)
-/? 3 c.816C>G - - p.Asp272Glu
-?/. - c.925+26841C>G likely benign r.(=) p.(=)
-?/. - c.925+26983T>C likely benign r.(=) p.(=)
?/. - c.925+27063A>G VUS r.(=) p.(=)
-/. - c.925+27104A>G benign r.(=) p.(=)
?/. - c.925+27345C>G VUS r.(=) p.(=)
?/? 3i c.926-35119T>A - r.(=) p.(=)
?/? 3i c.926-35119T>A - r.(=) p.(=)
?/? 3i c.926-35119T>A - r.(=) p.(=)
-/. - c.926-34827G>A benign r.(=) p.(=)
-/. - c.926-34546C>G benign r.(=) p.(=)
-?/. - c.926-34546C>G likely benign r.(=) p.(=)
-/. - c.926-34528A>G benign r.(=) p.(=)
+/? 4 c.983G>A - r.(?) p.(Trp328*)
+/? 4 c.983G>A - r.(?) p.(Trp328*)
+/? 4 c.983G>A - r.(?) p.(Trp328*)
+/? 4 c.983G>A - r.(?) p.(Trp328*)
+/? 4 c.983G>A - r.(?) p.(Trp328*)
+/? 4 c.983G>A - r.(?) p.(Trp328*)
+/? 4 c.983G>A - r.(?) p.(Trp328*)
+/? 4 c.983G>A - r.(?) p.(Trp328*)
?/? 4 c.1006G>A - r.(?) p.(Gly336Arg)
?/? 4 c.1006G>A - r.(?) p.(Gly336Arg)
?/? - c.1049G>A - r.(?) p.(Gly350Glu)
?/? - c.1049G>A - r.(?) p.(Gly350Glu)
?/? - c.1049G>A - r.(?) p.(Gly350Glu)
?/? - c.1049G>A - r.(?) p.(Gly350Glu)
?/? - c.1049G>A - r.(?) p.(Gly350Glu)
?/? - c.1049G>A - r.(?) p.(Gly350Glu)
+/? 5 c.1049G>A - r.1049g>a p.Gly350Glu
?/? 5 c.1049G>A - r.(?) p.(Gly350Glu)
?/? 5 c.1049G>A - r.(?) p.(Gly350Glu)
?/. - c.1058A>T VUS r.(?) p.(Asp353Val)
?/? - c.1154G>A - r.(?) p.(Arg385His)
?/? - c.1154G>A - r.(?) p.(Arg385His)
?/? - c.1154G>A - r.(?) p.(Arg385His)
+/? 5 c.1154G>A - r.1154g>a p.Arg385His
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