Transcript #00000149

Transcript name neurofibromin 2 (merlin), transcript variant 5
Gene name NF2 (neurofibromin 2)
Chromosome 22
Transcript - NCBI ID NM_181828.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_861966.1
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.115-2359C>G r.(=) p.(=)
./. - c.115-31T>C r.(=) p.(=)
./. - c.237+22C>G r.(=) p.(=)
./. - c.237+24C>A r.(=) p.(=)
./. - c.237+24C>A r.(=) p.(=)
./. - c.304_305insA r.(?) p.(Tyr102*)
./. - c.306C>T r.(=) p.(=)
./. - c.322-27C>T r.(=) p.(=)
./. - c.391G>A r.(?) p.(Val131Ile)
./. - c.467G>A r.(?) p.(Arg156Gln)
./. - c.473+3G>A r.spl? p.?
./. - c.473+41del r.(=) p.(=)
./. - c.473+41dup r.(=) p.(=)
./. - c.474-50C>T r.(=) p.(=)
./. - c.474-50C>T r.(=) p.(=)
./. - c.474-50C>T r.(=) p.(=)
./. - c.487A>G r.(?) p.(Met163Val)
./. - c.550-33C>T r.(=) p.(=)
./. - c.550-33C>T r.(=) p.(=)
./. - c.684+8_684+9del r.(=) p.(=)
./. - c.786T>C r.(=) p.(=)
./. - c.786T>C r.(=) p.(=)
./. - c.786T>C r.(=) p.(=)
./. - c.786T>C r.(=) p.(=)
./. - c.873+15G>A r.(=) p.(=)
./. - c.874-4G>A r.spl? p.?
./. - c.887G>A r.(?) p.(Arg296His)
./. - c.887G>A r.(?) p.(Arg296His)
./. - c.891C>T r.(=) p.(=)
./. - c.987C>T r.(=) p.(=)
./. - c.987C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1080C>T r.(=) p.(=)
./. - c.1131G>A r.(=) p.(=)
./. - c.1131G>A r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+8G>T r.(=) p.(=)
./. - c.1214+49G>A r.(=) p.(=)
./. - c.1215-12C>G r.(=) p.(=)
./. - c.1261G>A r.(?) p.(Glu421Lys)
./. - c.1266G>A r.(=) p.(=)
./. - c.1313C>T r.(?) p.(Thr438Met)
./. - c.1314G>A r.(=) p.(=)
./. - c.1314G>A r.(=) p.(=)
./. - c.1320+20G>C r.(=) p.(=)
./. - c.1320+20G>C r.(=) p.(=)
./. - c.1321-23A>T r.(=) p.(=)
./. - c.1356C>T r.(=) p.(=)
./. - c.1449-44A>G r.(=) p.(=)
./. - c.1449-5G>A r.spl? p.?
./. - c.1449-5G>A r.spl? p.?
./. - c.1544C>T r.(?) p.(Ala515Val)
./. - c.1595A>C r.(?) p.(His532Pro)
./. - c.1611+44A>G r.(=) p.(=)
./. - c.1611+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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