Transcript #00000150

Transcript name neurofibromin 2 (merlin), transcript variant 6
Gene name NF2 (neurofibromin 2)
Chromosome 22
Transcript - NCBI ID NM_181829.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_861967.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

81 entries on 1 page. Showing entries 1 - 81.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.115-20C>G r.(=) p.(=)
./. - c.240+2183T>C r.(=) p.(=)
./. - c.240+2358C>G r.(=) p.(=)
./. - c.240+2360C>A r.(=) p.(=)
./. - c.240+2360C>A r.(=) p.(=)
./. - c.307_308insA r.(?) p.(Tyr103*)
./. - c.309C>T r.(=) p.(=)
./. - c.325-27C>T r.(=) p.(=)
./. - c.394G>A r.(?) p.(Val132Ile)
./. - c.470G>A r.(?) p.(Arg157Gln)
./. - c.476+3G>A r.spl? p.?
./. - c.476+41del r.(=) p.(=)
./. - c.476+41dup r.(=) p.(=)
./. - c.477-50C>T r.(=) p.(=)
./. - c.477-50C>T r.(=) p.(=)
./. - c.477-50C>T r.(=) p.(=)
./. - c.490A>G r.(?) p.(Met164Val)
./. - c.553-33C>T r.(=) p.(=)
./. - c.553-33C>T r.(=) p.(=)
./. - c.687+8_687+9del r.(=) p.(=)
./. - c.789T>C r.(=) p.(=)
./. - c.789T>C r.(=) p.(=)
./. - c.789T>C r.(=) p.(=)
./. - c.789T>C r.(=) p.(=)
./. - c.876+15G>A r.(=) p.(=)
./. - c.877-4G>A r.spl? p.?
./. - c.890G>A r.(?) p.(Arg297His)
./. - c.890G>A r.(?) p.(Arg297His)
./. - c.894C>T r.(=) p.(=)
./. - c.990C>T r.(=) p.(=)
./. - c.990C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1083C>T r.(=) p.(=)
./. - c.1134G>A r.(=) p.(=)
./. - c.1134G>A r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+8G>T r.(=) p.(=)
./. - c.1217+49G>A r.(=) p.(=)
./. - c.1218-12C>G r.(=) p.(=)
./. - c.1264G>A r.(?) p.(Glu422Lys)
./. - c.1269G>A r.(=) p.(=)
./. - c.1316C>T r.(?) p.(Thr439Met)
./. - c.1317G>A r.(=) p.(=)
./. - c.1317G>A r.(=) p.(=)
./. - c.1323+20G>C r.(=) p.(=)
./. - c.1323+20G>C r.(=) p.(=)
./. - c.1324-23A>T r.(=) p.(=)
./. - c.1359C>T r.(=) p.(=)
./. - c.1452-44A>G r.(=) p.(=)
./. - c.1452-5G>A r.spl? p.?
./. - c.1452-5G>A r.spl? p.?
./. - c.1547C>T r.(?) p.(Ala516Val)
./. - c.1598A>C r.(?) p.(His533Pro)
./. - c.1614+44A>G r.(=) p.(=)
./. - c.1614+44A>G r.(=) p.(=)
./. - c.*34C>T r.(=) p.(=)
./. - c.*34C>T r.(=) p.(=)
./. - c.*34C>T r.(=) p.(=)
./. - c.*64G>A r.(=) p.(=)
./. - c.*64G>A r.(=) p.(=)
./. - c.*83A>G r.(=) p.(=)
./. - c.*111G>A r.(=) p.(=)
./. - c.*111G>A r.(=) p.(=)
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