Transcript #00000056

Transcript name excision repair cross-complementing rodent repair deficiency, complementation group 2, transcript variant 2
Gene name ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
Chromosome 19
Transcript - NCBI ID NM_001130867.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001124339.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

120 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-399C>A r.(=) p.(=)
./. - c.-326_-325insG r.(=) p.(=)
./. - c.-326_-325insG r.(=) p.(=)
./. - c.-326_-325insG r.(=) p.(=)
./. - c.-326_-325insG r.(=) p.(=)
./. - c.-326_-325insG r.(=) p.(=)
./. - c.-326_-325insG r.(=) p.(=)
./. - c.-326_-325insG r.(=) p.(=)
./. - c.-78C>T r.(=) p.(=)
./. - c.-72G>A r.(=) p.(=)
./. - c.-72G>A r.(=) p.(=)
./. - c.-72G>A r.(=) p.(=)
./. - c.-72G>A r.(=) p.(=)
./. - c.-72G>A r.(=) p.(=)
./. - c.-16C>T r.(=) p.(=)
./. - c.14A>C r.(?) p.(Lys5Thr)
./. - c.33+32C>T r.(=) p.(=)
./. - c.111+25A>G r.(=) p.(=)
./. - c.112-34C>T r.(=) p.(=)
./. - c.112-6C>T r.(=) p.(=)
./. - c.112-5G>T r.spl? p.?
./. - c.120G>A r.(=) p.(=)
./. - c.183A>G r.(=) p.(=)
./. - c.203A>G r.(?) p.(Asn68Ser)
./. - c.231G>C r.(?) p.(Lys77Asn)
./. - c.237G>A r.(=) p.(=)
./. - c.237G>A r.(=) p.(=)
./. - c.288+18C>T r.(=) p.(=)
./. - c.301C>T r.(?) p.(Arg101Cys)
./. - c.301C>T r.(?) p.(Arg101Cys)
./. - c.309G>A r.(=) p.(=)
./. - c.309G>A r.(=) p.(=)
./. - c.318del r.(?) p.(Asp107Metfs*50)
./. - c.330C>G r.(?) p.(Cys110Trp)
./. - c.356G>A r.(?) p.(Arg119Gln)
./. - c.370C>T r.(?) p.(His124Tyr)
./. - c.419A>G r.(?) p.(His140Arg)
./. - c.485G>A r.(?) p.(Arg162His)
./. - c.522+2_522+5del r.spl? p.?
./. - c.522+32G>A r.(=) p.(=)
./. - c.529C>T r.(?) p.(His177Tyr)
./. - c.529C>T r.(?) p.(His177Tyr)
./. - c.529C>T r.(?) p.(His177Tyr)
./. - c.529C>T r.(?) p.(His177Tyr)
./. - c.529C>T r.(?) p.(His177Tyr)
./. - c.543G>C r.(=) p.(=)
./. - c.607C>T r.(?) p.(Arg203Cys)
./. - c.615C>T r.(=) p.(=)
./. - c.646+14C>T r.(=) p.(=)
./. - c.646+14C>T r.(=) p.(=)
./. - c.646+14C>T r.(=) p.(=)
./. - c.744-2A>G r.spl? p.?
./. - c.767G>A r.(?) p.(Arg256His)
./. - c.874C>G r.(?) p.(Gln292Glu)
./. - c.877+9C>T r.(=) p.(=)
./. - c.877+21_877+22insT r.(=) p.(=)
./. - c.902C>T r.(?) p.(Thr301Met)
./. - c.961C>T r.(?) p.(Arg321Cys)
./. - c.1034G>A r.(?) p.(Arg345His)
./. - c.1034G>A r.(?) p.(Arg345His)
./. - c.1034G>A r.(?) p.(Arg345His)
./. - c.1034G>A r.(?) p.(Arg345His)
./. - c.1046+21C>T r.(=) p.(=)
./. - c.1046+29G>A r.(=) p.(=)
./. - c.1046+44C>T r.(=) p.(=)
./. - c.1047-5G>A r.spl? p.?
./. - c.1074G>C r.(=) p.(=)
./. - c.1088A>C r.(?) p.(Glu363Ala)
./. - c.1116G>A r.(=) p.(=)
./. - c.1142C>T r.(?) p.(Thr381Ile)
./. - c.1158C>T r.(=) p.(=)
./. - c.1165+20T>A r.(=) p.(=)
./. - c.1165+20T>A r.(=) p.(=)
./. - c.1165+20T>A r.(=) p.(=)
./. - c.*1117G>T r.(=) p.(=)
./. - c.*1190G>A r.(=) p.(=)
./. - c.*1244C>T r.(=) p.(=)
./. - c.*1272G>A r.(=) p.(=)
./. - c.*1287_*1288insC r.(=) p.(=)
./. - c.*1287_*1288insC r.(=) p.(=)
./. - c.*1295C>T r.(=) p.(=)
./. - c.*1307C>T r.(=) p.(=)
./. - c.*1307C>T r.(=) p.(=)
./. - c.*1307C>T r.(=) p.(=)
./. - c.*1326C>T r.(=) p.(=)
./. - c.*1348G>A r.(=) p.(=)
./. - c.*1386G>A r.(=) p.(=)
./. - c.*1394C>T r.(=) p.(=)
./. - c.*1394C>T r.(=) p.(=)
./. - c.*1402C>T r.(=) p.(=)
./. - c.*1413A>G r.(=) p.(=)
./. - c.*1413A>G r.(=) p.(=)
./. - c.*1452C>G r.(=) p.(=)
./. - c.*1481C>T r.(=) p.(=)
./. - c.*1481C>T r.(=) p.(=)
./. - c.*1481C>T r.(=) p.(=)
./. - c.*1500G>A r.(=) p.(=)
./. - c.*1514C>T r.(=) p.(=)
./. - c.*1514C>T r.(=) p.(=)
./. - c.*1514C>T r.(=) p.(=)
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