Canonical Allele Identifier: CA645601156
Gene: NF2 HGNC NCBI

Linked Data

COSMIC: COSM23739

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29674844_29674884del , CM000684.2:g.29674844_29674884del GRCh38
NC_000022.10:g.30070833_30070873del , CM000684.1:g.30070833_30070873del GRCh37
NC_000022.9:g.28400833_28400873del NCBI36
NG_009057.1:g.76289_76329del , LRG_511:g.76289_76329del

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.1214_1254del ENSP00000354529.6:p.Glu405GlyfsTer?
ENST00000673312.2:c.*843_*883del ENSP00000500186.2:n.*843_*883del
ENST00000338641.10:c.1349_1389del MANE Select ENSP00000344666.5:p.Glu450GlyfsTer?
ENST00000361166.9:c.767_807del ENSP00000354529.5:p.Glu256GlyfsTer?
ENST00000672461.1:c.1349_1389del ENSP00000500919.1:p.Glu450GlyfsTer?
ENST00000672805.1:c.*1231_*1271del ENSP00000500295.1:n.*1231_*1271del
ENST00000672896.1:c.1349_1389del ENSP00000500117.1:p.Glu450GlyfsTer?
ENST00000673312.1:c.1368_1408del ENSP00000500186.1:n.1368_1408del
ENST00000334961.11:c.1100_1140del ENSP00000335652.7:p.Glu367GlyfsTer?
ENST00000338641.8:c.1349_1389del ENSP00000344666.4:p.Glu450GlyfsTer?
ENST00000353887.8:c.1100_1140del ENSP00000340626.4:p.Glu367GlyfsTer?
ENST00000361166.8:c.1349_1389del ENSP00000354529.4:p.Glu450GlyfsTer?
ENST00000361452.8:c.1226_1266del ENSP00000354897.4:p.Glu409GlyfsTer?
ENST00000361676.8:c.1223_1263del ENSP00000355183.4:p.Glu408GlyfsTer?
ENST00000397789.3:c.1349_1389del ENSP00000380891.3:p.Glu450GlyfsTer?
ENST00000403435.5:c.1262_1302del ENSP00000384029.1:p.Glu421GlyfsTer?
ENST00000403999.7:c.1349_1389del ENSP00000384797.3:p.Glu450GlyfsTer?
ENST00000413209.6:c.448-19908_448-19868del ENSP00000409921.2:n.448-19908_448-19868de...
ENST00000432151.5:c.531_571del ENSP00000395885.1:p.Gly178ArgfsTer21
NM_000268.3:c.1349_1389del , LRG_511t1:c.1349_1389del NP_000259.1:p.Glu450GlyfsTer?
NM_016418.5:c.1349_1389del , LRG_511t2:c.1349_1389del NP_057502.2:p.Glu450GlyfsTer?
NM_181825.2:c.1349_1389del NP_861546.1:p.Glu450GlyfsTer?
NM_181828.2:c.1223_1263del NP_861966.1:p.Glu408GlyfsTer?
NM_181829.2:c.1226_1266del NP_861967.1:p.Glu409GlyfsTer?
NM_181830.2:c.1100_1140del NP_861968.1:p.Glu367GlyfsTer?
NM_181831.2:c.1100_1140del NP_861969.1:p.Glu367GlyfsTer?
NM_181832.2:c.1349_1389del NP_861970.1:p.Glu450GlyfsTer?
NM_181833.2:c.448-19908_448-19868del NP_861971.1:n.448-19908_448-19868del
NR_156186.1:n.1908_1948del
XM_017028809.2:c.1235_1275del XP_016884298.1:p.Glu412GlyfsTer?
XM_017028810.1:c.1235_1275del XP_016884299.1:p.Glu412GlyfsTer?
NM_000268.4:c.1349_1389del MANE Select NP_000259.1:p.Glu450GlyfsTer?
NM_181825.3:c.1349_1389del NP_861546.1:p.Glu450GlyfsTer?
NM_181828.3:c.1223_1263del NP_861966.1:p.Glu408GlyfsTer?
NM_181829.3:c.1226_1266del NP_861967.1:p.Glu409GlyfsTer?
NM_181830.3:c.1100_1140del NP_861968.1:p.Glu367GlyfsTer?
NM_181831.3:c.1100_1140del NP_861969.1:p.Glu367GlyfsTer?
NM_181832.3:c.1349_1389del NP_861970.1:p.Glu450GlyfsTer?
NR_156186.2:n.1831_1871del
NM_181833.3:c.448-19908_448-19868del NP_861971.1:n.448-19908_448-19868del