Transcript #00004616 (NM_031443.3, CCM2 gene)

Transcript name transcript variant 2
Gene name CCM2 (cerebral cavernous malformation 2)
Chromosome 7
Transcript - NCBI ID NM_031443.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_113631.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

62 entries on 1 page. Showing entries 1 - 62.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. _1_1i c.(?_-848)_(30+1_31-1)del r.0? p.0?
?/. - c.3G>A r.(?) p.(Met1?)
+/. - c.30G>A r.(?) p.(Lys10=)
+/. - c.30+2T>C r.spl? p.?
-/. - c.30+95G>C r.(=) p.(=)
-/. - c.31-10585G>C r.(=) p.(=)
-/. - c.31-10585G>C r.(=) p.(=)
+?/. 1i_2i c.(30+1_31-1)_(204+1_205-1)del r.? p.?
+/. - c.55C>T r.(?) p.(Arg19Ter)
+/. 2 c.113_116del r.(?) p.(Glu38Glyfs*21)
+?/. 2 c.134_135del r.(?) p.(Val45Glyfs*6)
+?/. 2 c.134_135del r.(?) p.(Val45Glyfs*6)
+?/. 14 c.134_135del r.(?) p.(Val45Glyfs*6)
+?/. - c.134_135del r.(?) p.(Val45Glyfs*6)
-/. - c.157G>A r.(?) p.(Val53Ile)
-/. - c.157G>A r.(?) p.(Val53Ile)
-/. - c.157G>A r.(?) p.(Val53Ile)
+/. - c.169_172del r.(?) p.(Arg57CysfsTer2)
+?/. - c.204+1dup r.spl? p.?
-/. - c.205-230T>G r.(=) p.(=)
+/. - c.232G>T r.(?) p.(Gly78Ter)
+?/. 3 c.236_237del r.(?) p.(Tyr79Serfs*6)
+/. - c.236_237del r.(?) p.(Tyr79SerfsTer6)
-?/. - c.246C>T r.(?) p.(Pro82=)
+/. 4 c.319C>T r.(?) p.(Gln107*)
-?/. - c.328G>A r.(?) p.(Asp110Asn)
-/. - c.351G>A r.(?) p.(Ala117=)
?/. - c.355_357del r.(?) p.(Asn119del)
-/. - c.358G>A r.(?) p.(Val120Ile)
-/. - c.358G>A r.(?) p.(Val120Ile)
-/. - c.358G>A r.(?) p.(Val120Ile)
?/. - c.367G>C r.(?) p.(Ala123Pro)
?/. - c.431A>G r.(?) p.(Tyr144Cys)
?/. - c.455T>C r.(?) p.(Leu152Pro)
+/. - c.470dup r.(?) p.(Ala158SerfsTer78)
-/. - c.472+127C>T r.(=) p.(=)
+/. - c.564_571del r.(?) p.(Pro189GlyfsTer44)
?/. - c.568G>A r.(?) p.(Val190Met)
+?/. 5 c.568G>A r.(?) p.(Val190Met)
-?/. - c.573G>C r.(?) p.(Glu191Asp)
+/. - c.578_582del r.(?) p.(Cys193SerfsTer41)
+/. - c.579C>A r.(?) p.(Cys193Ter)
+/. - c.596dup r.(?) p.(Ala200CysfsTer36)
+/. - c.609+1_609+9del r.spl? p.?
?/. - c.635T>C r.(?) p.(Leu212Pro)
+?/. - c.635T>C r.(?) p.(Leu212Pro)
+/. - c.745+1G>A r.spl? p.?
-?/. - c.745+23G>T r.(=) p.(=)
-?/. - c.804-5C>T r.spl? p.?
-/. - c.804-5C>T r.spl? p.?
-/. - c.866G>A r.(?) p.(Ser289Asn)
-?/. - c.866G>A r.(?) p.(Ser289Asn)
-/. - c.915G>A r.(?) p.(Thr305=)
-/. - c.915G>A r.(?) p.(Thr305=)
-/. - c.915G>A r.(?) p.(Thr305=)
+?/. 8i_9i c.(915+1_916-1)_(1054+1_1055-1)del r.? p.?
-/. - c.1054+12C>T r.(=) p.(=)
-?/. - c.1054+12C>T r.(=) p.(=)
+/. - c.1075G>T r.(?) p.(Glu359Ter)
-?/. - c.1091A>G r.(?) p.(His364Arg)
-/. - c.*6A>G r.(=) p.(=)
-/. - c.*19del r.(?) p.(=)
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