Transcript #00025230

Transcript name exostosin glycosyltransferase 2, transcript variant 2
Gene name EXT2 (exostosin 2)
Chromosome 11
Transcript - NCBI ID NM_207122.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_997005.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

406 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/- 1 c.-484T>C - r.(=) p.(=)
+?/+? 1_10i c.(-3341)_(1662+1)del - r.spl? p.(?)
+?/+? 1_14 c.(?_-334)_(*1143_?)del - r.spl? p.(?)
+?/+? 1_14 c.(?_-334)_(*1143_?)del - r.spl? p.(?)
+?/+? 1_14 c.(?_-334)_(*1143_?)del - r.spl? p.(?)
+?/+? 1_14 c.(?_-334)_(*1143_?)del - r.spl? p.(?)
+?/+? 1_14 c.(?_-334)_(*1143_?)del - r.spl? p.(?)
-/- 1_14 c.? - r.(?) p.(?)
-/- 1 c.-311G>A - r.(=) p.(=)
-/- 1 c.-214C>G - r.(=) p.(=)
+?/+? 1i_2i c.(-31+1_-30-1)_(536+1_537-1)del - r.spl? p.?
+?/+? 1i_8i c.(-31+1_-30-1)_(1305+1_1306-1)del - r.spl? p.?
-/- 1i c.-31+7G>T - r.(=) p.(=)
-/- 1i c.-31+22G>A - r.(=) p.(=)
-/- 1i c.-31+42A>G - r.(=) p.(=)
-/- 1i c.-31+54G>T - r.(=) p.(=)
-/. - c.-31+474G>A benign r.(=) p.(=)
-/- 1i c.-31+474G>A - r.(=) p.(=)
-/- 1i c.-31+496T>G - r.(=) p.(=)
+?/+? 1i_2 c.-30-10_441del - r.? p.?
?/? 2 c.-28G>A - r.(=) p.(=)
-/- 2 c.28C>A - r.(=) p.(=)
+?/+? 2 c.63del - r.(?) p.(Lys21Asnfs*38)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.67C>T - r.(?) p.(Arg23*)
+?/+? 2 c.78dup - r.(?) p.(Ile27Tyrfs*29)
+?/+? 2 c.81del - r.(?) p.(Thr28Profs*31)
+?/+? 2 c.112_113del - r.(?) p.(Ile38Cysfs*17)
-/. - c.124A>G benign r.(?) p.(Met42Val)
+?/+? 2 c.124del - r.(?) p.(Met42Cysfs*17)
+?/+? 2 c.151G>T - r.(?) p.(Glu51*)
+?/+? 2 c.151G>T - r.(?) p.(Glu51*)
+?/+? 2 c.151G>T - r.(?) p.(Glu51*)
+?/+? 2 c.151G>T - r.(?) p.(Glu51*)
+?/+? 2 c.178A>T - r.(?) p.(Lys60*)
+?/+? 2 c.197_202delinsC - r.(?) p.(Val66Alafs*3)
+?/+? 2 c.200dup - r.(?) p.(Val68Glyfs*3)
+?/+? 2 c.201_202insC - r.(?) p.(Val68Argfs*3)
+?/+? 2 c.233del - r.(?) p.(Pro78Glnfs*34)
+?/+? 2 c.244del - r.(?) p.(Asp82Ilefs*30)
+?/+? 2 c.244dup - r.(?) p.(Asp82Glyfs*11)
+?/+? 2 c.244dup - r.(?) p.(Asp82Glyfs*11)
+?/+? 2 c.244_245insC - r.(?) p.(Asp82Alafs*11)
+?/+? 2 c.245del - r.(?) p.(Asp82Valfs*30)
+?/+ 2 c.253T>C - r.(?) p.(Cys85Arg)
+?/+? 2 c.269_271delinsAAA - r.(?) p.(Cys90*)
+?/+? 2 c.302_357del - r.(?) p.(Lys101Serfs*12)
+?/+? 2 c.313A>T - r.(?) p.(Lys105*)
+?/+? 2 c.314del - r.(?) p.(Lys105Argfs*7)
+?/+? 2 c.316dup - r.(?) p.(Val106Glyfs*12)
+?/+? 2 c.317dup - r.(?) p.(Tyr107Valfs*11)
+?/+? 2 c.318_319dup - r.(?) p.(Tyr107Cysfs*6)
+?/+? 2 c.342C>A - r.(?) p.(Tyr114*)
+?/+? 2 c.342C>G - r.(?) p.(Tyr114*)
+?/+? 2 c.362_363del - r.(?) p.(Ser121Cysfs*10)
+?/+? 2 c.372del - r.(?) p.(Asn124Lysfs*146)
+?/+? 2 c.374_443del - r.(?) p.(Ile126Glyfs*121)
+/. - c.381del pathogenic r.(?) p.(Arg128Glyfs*142)
+?/+? 2 c.382C>T - r.(?) p.(Arg128Trp)
+?/+? 2 c.390T>A - r.(?) p.(Tyr130*)
+/. - c.395_396del pathogenic r.(?) p.(Glu132Alafs*9)
+?/+? 2 c.398T>G - r.(?) p.(Leu133Arg)
+/. - c.415C>T pathogenic - -
+?/+? 2 c.427dup - r.(?) p.(Tyr143Leufs*3)
+?/+? 2 c.445_454del - r.(?) p.(Arg149Cysfs*118)
+?/+? 2 c.448G>A - r.(?) p.(Ala150Thr)
+?/+? 2 c.451_461dup - r.(?) p.(Pro155Valfs*119)
+?/+? 2 c.454_457del - r.(?) p.(Val154Profs*115)
+?/+? 2 c.454_457del - r.(?) p.(Val154Profs*115)
+?/+? 2 c.454_457del - r.(?) p.(Val154Profs*115)
+?/+? 2 c.454_457del - r.(?) p.(Val154Profs*115)
+?/+? 2 c.454_457del - r.(?) p.(Val154Profs*115)
+?/+? 2 c.454_457del - r.(?) p.(Val154Profs*115)
+?/+ 2 c.455T>G - r.(?) p.(Leu152Arg)
+?/+? 2 c.455_458del - r.(?) p.(Val154Profs*115)
+?/+? 2 c.459del - r.(?) p.(Phe153Leufs*117)
+?/+? 2 c.459_462del - r.(?) p.(Val154Profs*115)
+?/+? 2 c.459_462del - r.(?) p.(Val154Profs*115)
+?/+? 2 c.459_462del - r.(?) p.(Val154Profs*115)
+?/+? 2 c.468del - r.(?) p.(Ile157Serfs*113)
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