Transcript #00013950

Transcript name transcript variant 1
Gene name MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli))
Chromosome 2
Transcript - NCBI ID NM_000251.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000242.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

7709 entries on 78 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1076+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1276+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1276+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1386+?del pathogenic r.(?) p.?
+/. - c.(?_-68)_1661+?del pathogenic r.(?) p.?
+/+ 1_11i c.-75398_1759+1708del pathogenic r.spl p.?
+/. 1_11i c.-75398_1759+1708del pathogenic r.spl p.(=)
+/. 1_11i c.-75398_1759+1708del pathogenic r.spl p.(=)
+/. 1_7i c.-47156_1277-4980del pathogenic r.spl p.(=)
+/. 1_7i c.-47156_1277-4980del pathogenic r.spl p.(=)
+/+ 1_7i c.-47156_1277-4980del pathogenic r.spl? p.(=)
+/+ 1_7i c.-35298_1276+5697del pathogenic r.spl? p.(=)
+/. 1_7i c.-35298_1276+5697del pathogenic r.spl p.(=)
+/. 1_7i c.-35298_1276+5697del pathogenic r.spl p.(=)
+/. 1_7i c.-35298_1276+5697del pathogenic r.spl p.(=)
+/. _1_4i c.-33687_-16578del pathogenic (dominant) r.0? p.0?
+/. _1 c.-25189_-2353del pathogenic NM_002354.2:r.-358_555::r.212_*279 p.?
+/. _1 c.-25189_-2353del pathogenic r.-125_211delinsNM_002354.2:-358_555] p.?
+/. _1_3i c.-19886_646-254del pathogenic (dominant) r.0? p.0?
+/. _1 c.-19488_-14580del pathogenic r.[NM_002354.2:r.-358_858::212_*279, NM_002354.2:r.-358_858::-4237_-4127ins212_*279] p.?
+/. _1 c.-19488_-14580del pathogenic r.? p.?
+/. _1 c.-19488_-14580del pathogenic r.? p.?
+/. _1 c.-19488_-14580del pathogenic r.? p.?
+/. _1 c.-19488_-14580del pathogenic r.? p.?
+/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=)
+/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=)
+/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=)
+/+ 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl? p.(=)
+/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=)
+/. 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl p.(=)
+/. 1_2i c.-4729_367-353del pathogenic r.? p.?
+/. 1_2i c.-4729_367-353del pathogenic r.? p.?
+/+ 1_2i c.-4729_367-353del pathogenic r.? p.?
+/. 1_3i c.-1753_645+922del pathogenic r.spl p.(=)
+/. 1_3i c.-1753_645+922del pathogenic r.spl p.(=)
+/+ 1_3i c.-1753_645+922del pathogenic r.spl p.?
+/+ 1_6i c.-956_1077-5607del pathogenic r.spl? p.(=)
+/. 1_6i c.-956_1077-5607del pathogenic r.spl p.(=)
+/+ 1_6i c.-823_1076+5984del pathogenic r.spl? p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
+/. 1_6i c.-823_1076+5984del pathogenic r.spl p.(=)
-/- 1 c.-433T>G InSiGHT: 1 r.(?) p.(=)
?/. 1 c.-433T>G VUS r.(?) p.(=)
?/. 1 c.-433T>G VUS r.(?) p.(=)
?/. 1 c.-225G>C VUS r.(?) p.(=)
?/. 1 c.-225G>C VUS r.(?) p.(=)
?/? 1 c.-225G>C VUS r.(?) p.(=)
?/. 1 c.-190C>T VUS r.(?) p.(=)
?/. 1 c.-190C>T VUS r.(?) p.(=)
?/? 1 c.-190C>T VUS r.(?) p.(=)
?/. 1 c.-185C>A VUS r.(?) p.(=)
?/. 1 c.-140G>T VUS r.(?) p.(=)
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
+/. _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0?
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