View transcript #00000002

Transcript name breast cancer 2, early onset
Gene name BRCA2 (BRCA2, DNA repair associated)
Chromosome 13
Transcript - NCBI ID NM_000059.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000050.2
Protein - Ensembl ID -
Protein - Uniprot ID -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/? 2i c.68-7T>A r.(=) p.(=)
./+ 5 c.462_463delAA r.(?) p.(Asp156*)
./. 10 c.1775A>T r.(?) p.(Tyr592Phe)
+/+ 10 c.1813dupA r.(?) p.(Ile605Asnfs*11)
+/+ 11 c.2099T>G r.(?) p.(Leu700*)
+/+ 11 c.2808_2811delACAA r.(?) p.(Ala938Profs*21)
?/? 11 c.3839A>T r.(?) p.(Asp1280Val)
+/+ 11 c.3847_3848delGT r.(?) p.(Val1283Lysfs*2)
./. 11 c.4307T>C r.(?) p.(Ile1436Thr)
?/? 11 c.5070A>C r.(?) p.(Lys1690Asn)
./. 11 c.5552T>G r.(?) p.(Ile1851Ser)
+/+ 2 c.5641_5644delAAAT r.(?) p.(Lys1881Glnfs*27)
+/+ 11 c.5851_5854delAGTT r.(?) p.(Ser1951Trpfs*11)
+/+ 11 c.6275_6276delTT r.(?) p.(Leu2092Profs*7)
./+ 14 c.7008-1_7976+1del r.spl? p.(Thr2337_Arg2659del)
./+? 25 c.9501+1G>C r.spl? p.?
?/? 27 c.9976A>T r.(?) p.(Lys3326*)
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