Canonical Allele Identifier: CA645600870

Gene: NF2

Linked Data

• COSMIC: COSM1685281 ; COSM1685282

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639096_29639102del , CM000684.2:g.29639096_29639102del	GRCh38
NC_000022.10:g.30035085_30035091del , CM000684.1:g.30035085_30035091del	GRCh37
NC_000022.9:g.28365085_28365091del	NCBI36
NG_009057.1:g.40541_40547del , LRG_511:g.40541_40547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.247_253del	ENSP00000354529.6:p.Asp83MetfsTer?
ENST00000673312.2:c.247_253del	ENSP00000500186.2:p.Asp83MetfsTer?
ENST00000338641.10:c.247_253del MANE Select	ENSP00000344666.5:p.Asp83MetfsTer?
ENST00000672461.1:c.247_253del	ENSP00000500919.1:p.Asp83MetfsTer?
ENST00000672805.1:c.*129_*135del	ENSP00000500295.1:n.*129_*135del
ENST00000672896.1:c.247_253del	ENSP00000500117.1:p.Asp83MetfsTer?
ENST00000673312.1:c.160_166del	ENSP00000500186.1:p.Asp54MetfsTer?
ENST00000334961.11:c.115-3106_115-3100del	ENSP00000335652.7:n.115-3106_115-3100del
ENST00000338641.8:c.247_253del	ENSP00000344666.4:p.Asp83MetfsTer?
ENST00000353887.8:c.115-3106_115-3100del	ENSP00000340626.4:n.115-3106_115-3100del
ENST00000361166.8:c.247_253del	ENSP00000354529.4:p.Asp83MetfsTer?
ENST00000361452.8:c.240+2220_240+2226del	ENSP00000354897.4:n.240+2220_240+2226del
ENST00000361676.8:c.121_127del	ENSP00000355183.4:p.Asp41MetfsTer?
ENST00000397789.3:c.247_253del	ENSP00000380891.3:p.Asp83MetfsTer?
ENST00000403435.5:c.247_253del	ENSP00000384029.1:p.Asp83MetfsTer?
ENST00000403999.7:c.247_253del	ENSP00000384797.3:p.Asp83MetfsTer?
ENST00000413209.6:c.247_253del	ENSP00000409921.2:p.Asp83MetfsTer?
ENST00000432151.5:c.115-3106_115-3100del	ENSP00000395885.1:n.115-3106_115-3100del
NM_000268.3:c.247_253del , LRG_511t1:c.247_253del	NP_000259.1:p.Asp83MetfsTer?
NM_016418.5:c.247_253del , LRG_511t2:c.247_253del	NP_057502.2:p.Asp83MetfsTer?
NM_181825.2:c.247_253del	NP_861546.1:p.Asp83MetfsTer?
NM_181828.2:c.121_127del	NP_861966.1:p.Asp41MetfsTer?
NM_181829.2:c.240+2220_240+2226del	NP_861967.1:n.240+2220_240+2226del
NM_181830.2:c.115-3106_115-3100del	NP_861968.1:n.115-3106_115-3100del
NM_181831.2:c.115-3106_115-3100del	NP_861969.1:n.115-3106_115-3100del
NM_181832.2:c.247_253del	NP_861970.1:p.Asp83MetfsTer?
NM_181833.2:c.247_253del	NP_861971.1:p.Asp83MetfsTer?
NR_156186.1:n.806_812del
XM_017028809.2:c.133_139del	XP_016884298.1:p.Asp45MetfsTer?
XM_017028810.1:c.133_139del	XP_016884299.1:p.Asp45MetfsTer?
NM_000268.4:c.247_253del MANE Select	NP_000259.1:p.Asp83MetfsTer?
NM_181825.3:c.247_253del	NP_861546.1:p.Asp83MetfsTer?
NM_181828.3:c.121_127del	NP_861966.1:p.Asp41MetfsTer?
NM_181829.3:c.240+2220_240+2226del	NP_861967.1:n.240+2220_240+2226del
NM_181830.3:c.115-3106_115-3100del	NP_861968.1:n.115-3106_115-3100del
NM_181831.3:c.115-3106_115-3100del	NP_861969.1:n.115-3106_115-3100del
NM_181832.3:c.247_253del	NP_861970.1:p.Asp83MetfsTer?
NR_156186.2:n.729_735del
NM_181833.3:c.247_253del	NP_861971.1:p.Asp83MetfsTer?