Transcript #00000146

Transcript name neurofibromin 2 (merlin), transcript variant 12
Gene name NF2 (neurofibromin 2)
Chromosome 22
Transcript - NCBI ID NM_181825.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_861546.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

79 entries on 1 page. Showing entries 1 - 79.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.(?) r.(?) p.(?)
./. - c.115-20C>G r.(=) p.(=)
./. - c.241-31T>C r.(=) p.(=)
./. - c.363+22C>G r.(=) p.(=)
./. - c.363+24C>A r.(=) p.(=)
./. - c.363+24C>A r.(=) p.(=)
./. - c.430_431insA r.(?) p.(Tyr144*)
./. - c.432C>T r.(=) p.(=)
./. - c.448-27C>T r.(=) p.(=)
./. - c.517G>A r.(?) p.(Val173Ile)
./. - c.593G>A r.(?) p.(Arg198Gln)
./. - c.599+3G>A r.spl? p.?
./. - c.599+41del r.(=) p.(=)
./. - c.599+41dup r.(=) p.(=)
./. - c.600-50C>T r.(=) p.(=)
./. - c.600-50C>T r.(=) p.(=)
./. - c.600-50C>T r.(=) p.(=)
./. - c.613A>G r.(?) p.(Met205Val)
./. - c.676-33C>T r.(=) p.(=)
./. - c.676-33C>T r.(=) p.(=)
./. - c.810+8_810+9del r.(=) p.(=)
./. - c.912T>C r.(=) p.(=)
./. - c.912T>C r.(=) p.(=)
./. - c.912T>C r.(=) p.(=)
./. - c.912T>C r.(=) p.(=)
./. - c.912T>C r.(=) p.(=)
./. - c.999+15G>A r.(=) p.(=)
./. - c.999+15G>A r.(=) p.(=)
./. - c.1000-7C>G r.(=) p.(=)
./. - c.1000-4G>A r.spl? p.?
./. - c.1013G>A r.(?) p.(Arg338His)
./. - c.1013G>A r.(?) p.(Arg338His)
./. - c.1017C>T r.(=) p.(=)
./. - c.1113C>T r.(=) p.(=)
./. - c.1113C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1206C>T r.(=) p.(=)
./. - c.1257G>A r.(=) p.(=)
./. - c.1257G>A r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+8G>T r.(=) p.(=)
./. - c.1340+49G>A r.(=) p.(=)
./. - c.1341-12C>G r.(=) p.(=)
./. - c.1387G>A r.(?) p.(Glu463Lys)
./. - c.1392G>A r.(=) p.(=)
./. - c.1439C>T r.(?) p.(Thr480Met)
./. - c.1439C>T r.(?) p.(Thr480Met)
./. - c.1440G>A r.(=) p.(=)
./. - c.1440G>A r.(=) p.(=)
./. - c.1446+20G>C r.(=) p.(=)
./. - c.1446+20G>C r.(=) p.(=)
./. - c.1447-23A>T r.(=) p.(=)
./. - c.1482C>T r.(=) p.(=)
./. - c.1575-44A>G r.(=) p.(=)
./. - c.1575-5G>A r.spl? p.?
./. - c.1575-5G>A r.spl? p.?
./. - c.1670C>T r.(?) p.(Ala557Val)
./. - c.1721A>C r.(?) p.(His574Pro)
./. - c.1737+44A>G r.(=) p.(=)
./. - c.1737+44A>G r.(=) p.(=)
Legend