Canonical Allele Identifier: CA645601175

Gene: NF2

Linked Data

• COSMIC: COSM6197944

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674916_29674925del , CM000684.2:g.29674916_29674925del	GRCh38
NC_000022.10:g.30070905_30070914del , CM000684.1:g.30070905_30070914del	GRCh37
NC_000022.9:g.28400905_28400914del	NCBI36
NG_009057.1:g.76361_76370del , LRG_511:g.76361_76370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1286_1295del	ENSP00000354529.6:p.Glu429AlafsTer8
ENST00000673312.2:c.*915_*924del	ENSP00000500186.2:n.*915_*924del
ENST00000338641.10:c.1421_1430del MANE Select	ENSP00000344666.5:p.Glu474AlafsTer8
ENST00000361166.9:c.839_848del	ENSP00000354529.5:p.Glu280AlafsTer8
ENST00000672461.1:c.1421_1430del	ENSP00000500919.1:p.Glu474AlafsTer8
ENST00000672805.1:c.*1303_*1312del	ENSP00000500295.1:n.*1303_*1312del
ENST00000672896.1:c.1421_1430del	ENSP00000500117.1:p.Glu474AlafsTer8
ENST00000673312.1:c.1440_1449del	ENSP00000500186.1:n.1440_1449del
ENST00000334961.11:c.1172_1181del	ENSP00000335652.7:p.Glu391AlafsTer8
ENST00000338641.8:c.1421_1430del	ENSP00000344666.4:p.Glu474AlafsTer8
ENST00000353887.8:c.1172_1181del	ENSP00000340626.4:p.Glu391AlafsTer8
ENST00000361166.8:c.1421_1430del	ENSP00000354529.4:p.Glu474AlafsTer8
ENST00000361452.8:c.1298_1307del	ENSP00000354897.4:p.Glu433AlafsTer8
ENST00000361676.8:c.1295_1304del	ENSP00000355183.4:p.Glu432AlafsTer8
ENST00000397789.3:c.1421_1430del	ENSP00000380891.3:p.Glu474AlafsTer8
ENST00000403435.5:c.1334_1343del	ENSP00000384029.1:p.Glu445AlafsTer8
ENST00000403999.7:c.1421_1430del	ENSP00000384797.3:p.Glu474AlafsTer8
ENST00000413209.6:c.448-19836_448-19827del	ENSP00000409921.2:n.448-19836_448-19827del
ENST00000432151.5:c.603_612del	ENSP00000395885.1:p.Asp202LysfsTer?
NM_000268.3:c.1421_1430del , LRG_511t1:c.1421_1430del	NP_000259.1:p.Glu474AlafsTer8
NM_016418.5:c.1421_1430del , LRG_511t2:c.1421_1430del	NP_057502.2:p.Glu474AlafsTer8
NM_181825.2:c.1421_1430del	NP_861546.1:p.Glu474AlafsTer8
NM_181828.2:c.1295_1304del	NP_861966.1:p.Glu432AlafsTer8
NM_181829.2:c.1298_1307del	NP_861967.1:p.Glu433AlafsTer8
NM_181830.2:c.1172_1181del	NP_861968.1:p.Glu391AlafsTer8
NM_181831.2:c.1172_1181del	NP_861969.1:p.Glu391AlafsTer8
NM_181832.2:c.1421_1430del	NP_861970.1:p.Glu474AlafsTer8
NM_181833.2:c.448-19836_448-19827del	NP_861971.1:n.448-19836_448-19827del
NR_156186.1:n.1980_1989del
XM_017028809.2:c.1307_1316del	XP_016884298.1:p.Glu436AlafsTer8
XM_017028810.1:c.1307_1316del	XP_016884299.1:p.Glu436AlafsTer8
NM_000268.4:c.1421_1430del MANE Select	NP_000259.1:p.Glu474AlafsTer8
NM_181825.3:c.1421_1430del	NP_861546.1:p.Glu474AlafsTer8
NM_181828.3:c.1295_1304del	NP_861966.1:p.Glu432AlafsTer8
NM_181829.3:c.1298_1307del	NP_861967.1:p.Glu433AlafsTer8
NM_181830.3:c.1172_1181del	NP_861968.1:p.Glu391AlafsTer8
NM_181831.3:c.1172_1181del	NP_861969.1:p.Glu391AlafsTer8
NM_181832.3:c.1421_1430del	NP_861970.1:p.Glu474AlafsTer8
NR_156186.2:n.1903_1912del
NM_181833.3:c.448-19836_448-19827del	NP_861971.1:n.448-19836_448-19827del