Canonical Allele Identifier: CA645600872

Gene: NF2

Linked Data

• COSMIC: COSM22448

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639106_29639180del , CM000684.2:g.29639106_29639180del	GRCh38
NC_000022.10:g.30035095_30035169del , CM000684.1:g.30035095_30035169del	GRCh37
NC_000022.9:g.28365095_28365169del	NCBI36
NG_009057.1:g.40551_40625del , LRG_511:g.40551_40625del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.257_331del	ENSP00000354529.6:p.Val86_Gln111delinsGlu...
ENST00000673312.2:c.257_331del	ENSP00000500186.2:p.Val86_Gln111delinsGlu...
ENST00000338641.10:c.257_331del MANE Select	ENSP00000344666.5:p.Val86_Gln111delinsGlu...
ENST00000672461.1:c.257_331del	ENSP00000500919.1:p.Val86_Gln111delinsGlu...
ENST00000672805.1:c.*139_*213del	ENSP00000500295.1:n.*139_*213del
ENST00000672896.1:c.257_331del	ENSP00000500117.1:p.Val86_Gln111delinsGlu...
ENST00000673312.1:c.170_244del	ENSP00000500186.1:p.Val57_Gln82delinsGlu
ENST00000334961.11:c.115-3096_115-3022del	ENSP00000335652.7:n.115-3096_115-3022del
ENST00000338641.8:c.257_331del	ENSP00000344666.4:p.Val86_Gln111delinsGlu...
ENST00000353887.8:c.115-3096_115-3022del	ENSP00000340626.4:n.115-3096_115-3022del
ENST00000361166.8:c.257_331del	ENSP00000354529.4:p.Val86_Gln111delinsGlu...
ENST00000361452.8:c.240+2230_240+2304del	ENSP00000354897.4:n.240+2230_240+2304del
ENST00000361676.8:c.131_205del	ENSP00000355183.4:p.Val44_Gln69delinsGlu
ENST00000397789.3:c.257_331del	ENSP00000380891.3:p.Val86_Gln111delinsGlu...
ENST00000403435.5:c.257_331del	ENSP00000384029.1:p.Val86_Gln111delinsGlu...
ENST00000403999.7:c.257_331del	ENSP00000384797.3:p.Val86_Gln111delinsGlu...
ENST00000413209.6:c.257_331del	ENSP00000409921.2:p.Val86_Gln111delinsGlu...
ENST00000432151.5:c.115-3096_115-3022del	ENSP00000395885.1:n.115-3096_115-3022del
NM_000268.3:c.257_331del , LRG_511t1:c.257_331del	NP_000259.1:p.Val86_Gln111delinsGlu
NM_016418.5:c.257_331del , LRG_511t2:c.257_331del	NP_057502.2:p.Val86_Gln111delinsGlu
NM_181825.2:c.257_331del	NP_861546.1:p.Val86_Gln111delinsGlu
NM_181828.2:c.131_205del	NP_861966.1:p.Val44_Gln69delinsGlu
NM_181829.2:c.240+2230_240+2304del	NP_861967.1:n.240+2230_240+2304del
NM_181830.2:c.115-3096_115-3022del	NP_861968.1:n.115-3096_115-3022del
NM_181831.2:c.115-3096_115-3022del	NP_861969.1:n.115-3096_115-3022del
NM_181832.2:c.257_331del	NP_861970.1:p.Val86_Gln111delinsGlu
NM_181833.2:c.257_331del	NP_861971.1:p.Val86_Gln111delinsGlu
NR_156186.1:n.816_890del
XM_017028809.2:c.143_217del	XP_016884298.1:p.Val48_Gln73delinsGlu
XM_017028810.1:c.143_217del	XP_016884299.1:p.Val48_Gln73delinsGlu
NM_000268.4:c.257_331del MANE Select	NP_000259.1:p.Val86_Gln111delinsGlu
NM_181825.3:c.257_331del	NP_861546.1:p.Val86_Gln111delinsGlu
NM_181828.3:c.131_205del	NP_861966.1:p.Val44_Gln69delinsGlu
NM_181829.3:c.240+2230_240+2304del	NP_861967.1:n.240+2230_240+2304del
NM_181830.3:c.115-3096_115-3022del	NP_861968.1:n.115-3096_115-3022del
NM_181831.3:c.115-3096_115-3022del	NP_861969.1:n.115-3096_115-3022del
NM_181832.3:c.257_331del	NP_861970.1:p.Val86_Gln111delinsGlu
NR_156186.2:n.739_813del
NM_181833.3:c.257_331del	NP_861971.1:p.Val86_Gln111delinsGlu