Transcript #00000147

Transcript name neurofibromin 2 (merlin), transcript variant 13
Gene name NF2 (neurofibromin 2)
Chromosome 22
Transcript - NCBI ID NM_181831.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_861969.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

79 entries on 1 page. Showing entries 1 - 79.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.(?) r.(?) p.(?)
./. - c.115-5471C>G r.(=) p.(=)
./. - c.115-3143T>C r.(=) p.(=)
./. - c.115-2968C>G r.(=) p.(=)
./. - c.115-2966C>A r.(=) p.(=)
./. - c.115-2966C>A r.(=) p.(=)
./. - c.181_182insA r.(?) p.(Tyr61*)
./. - c.183C>T r.(=) p.(=)
./. - c.199-27C>T r.(=) p.(=)
./. - c.268G>A r.(?) p.(Val90Ile)
./. - c.344G>A r.(?) p.(Arg115Gln)
./. - c.350+3G>A r.spl? p.?
./. - c.350+41del r.(=) p.(=)
./. - c.350+41dup r.(=) p.(=)
./. - c.351-50C>T r.(=) p.(=)
./. - c.351-50C>T r.(=) p.(=)
./. - c.351-50C>T r.(=) p.(=)
./. - c.364A>G r.(?) p.(Met122Val)
./. - c.427-33C>T r.(=) p.(=)
./. - c.427-33C>T r.(=) p.(=)
./. - c.561+8_561+9del r.(=) p.(=)
./. - c.663T>C r.(=) p.(=)
./. - c.663T>C r.(=) p.(=)
./. - c.663T>C r.(=) p.(=)
./. - c.663T>C r.(=) p.(=)
./. - c.663T>C r.(=) p.(=)
./. - c.750+15G>A r.(=) p.(=)
./. - c.750+15G>A r.(=) p.(=)
./. - c.751-7C>G r.(=) p.(=)
./. - c.751-4G>A r.spl? p.?
./. - c.764G>A r.(?) p.(Arg255His)
./. - c.764G>A r.(?) p.(Arg255His)
./. - c.768C>T r.(=) p.(=)
./. - c.864C>T r.(=) p.(=)
./. - c.864C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.957C>T r.(=) p.(=)
./. - c.1008G>A r.(=) p.(=)
./. - c.1008G>A r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+8G>T r.(=) p.(=)
./. - c.1091+49G>A r.(=) p.(=)
./. - c.1092-12C>G r.(=) p.(=)
./. - c.1138G>A r.(?) p.(Glu380Lys)
./. - c.1143G>A r.(=) p.(=)
./. - c.1190C>T r.(?) p.(Thr397Met)
./. - c.1190C>T r.(?) p.(Thr397Met)
./. - c.1191G>A r.(=) p.(=)
./. - c.1191G>A r.(=) p.(=)
./. - c.1197+20G>C r.(=) p.(=)
./. - c.1197+20G>C r.(=) p.(=)
./. - c.1198-23A>T r.(=) p.(=)
./. - c.1233C>T r.(=) p.(=)
./. - c.1326-44A>G r.(=) p.(=)
./. - c.1326-5G>A r.spl? p.?
./. - c.1326-5G>A r.spl? p.?
./. - c.1421C>T r.(?) p.(Ala474Val)
./. - c.1472A>C r.(?) p.(His491Pro)
./. - c.1488+44A>G r.(=) p.(=)
./. - c.1488+44A>G r.(=) p.(=)
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