Canonical Allele Identifier: CA645601221

Gene: NF2

Linked Data

• COSMIC: COSM51512

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29681442_29681445del , CM000684.2:g.29681442_29681445del	GRCh38
NC_000022.10:g.30077431_30077434del , CM000684.1:g.30077431_30077434del	GRCh37
NC_000022.9:g.28407431_28407434del	NCBI36
NG_009057.1:g.82887_82890del , LRG_511:g.82887_82890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1443_1446del	ENSP00000354529.6:p.Glu482ThrfsTer22
ENST00000673312.2:c.*1072_*1075del	ENSP00000500186.2:n.*1072_*1075del
ENST00000338641.10:c.1578_1581del MANE Select	ENSP00000344666.5:p.Glu527ThrfsTer22
ENST00000361166.9:c.996_999del	ENSP00000354529.5:p.Glu333ThrfsTer22
ENST00000672461.1:c.1578_1581del	ENSP00000500919.1:p.Glu527ThrfsTer22
ENST00000672805.1:c.*1460_*1463del	ENSP00000500295.1:n.*1460_*1463del
ENST00000672896.1:c.1578_1581del	ENSP00000500117.1:p.Glu527ThrfsTer22
ENST00000673312.1:c.1597_1600del	ENSP00000500186.1:n.1597_1600del
ENST00000334961.11:c.1329_1332del	ENSP00000335652.7:p.Glu444ThrfsTer22
ENST00000338641.8:c.1578_1581del	ENSP00000344666.4:p.Glu527ThrfsTer22
ENST00000353887.8:c.1329_1332del	ENSP00000340626.4:p.Glu444ThrfsTer22
ENST00000361166.8:c.1578_1581del	ENSP00000354529.4:p.Glu527ThrfsTer22
ENST00000361452.8:c.1455_1458del	ENSP00000354897.4:p.Glu486ThrfsTer22
ENST00000361676.8:c.1452_1455del	ENSP00000355183.4:p.Glu485ThrfsTer22
ENST00000397789.3:c.1578_1581del	ENSP00000380891.3:p.Glu527ThrfsTer22
ENST00000403435.5:c.1491_1494del	ENSP00000384029.1:p.Glu498ThrfsTer22
ENST00000403999.7:c.1578_1581del	ENSP00000384797.3:p.Glu527ThrfsTer22
ENST00000413209.6:c.448-13310_448-13307del	ENSP00000409921.2:n.448-13310_448-13307del
ENST00000432151.5:c.*93+3119_*93+3122del	ENSP00000395885.1:n.*93+3119_*93+3122del
NM_000268.3:c.1578_1581del , LRG_511t1:c.1578_1581del	NP_000259.1:p.Glu527ThrfsTer22
NM_016418.5:c.1578_1581del , LRG_511t2:c.1578_1581del	NP_057502.2:p.Glu527ThrfsTer22
NM_181825.2:c.1578_1581del	NP_861546.1:p.Glu527ThrfsTer22
NM_181828.2:c.1452_1455del	NP_861966.1:p.Glu485ThrfsTer22
NM_181829.2:c.1455_1458del	NP_861967.1:p.Glu486ThrfsTer22
NM_181830.2:c.1329_1332del	NP_861968.1:p.Glu444ThrfsTer22
NM_181831.2:c.1329_1332del	NP_861969.1:p.Glu444ThrfsTer22
NM_181832.2:c.1578_1581del	NP_861970.1:p.Glu527ThrfsTer22
NM_181833.2:c.448-13310_448-13307del	NP_861971.1:n.448-13310_448-13307del
NR_156186.1:n.2137_2140del
XM_017028809.2:c.1464_1467del	XP_016884298.1:p.Glu489ThrfsTer22
XM_017028810.1:c.1464_1467del	XP_016884299.1:p.Glu489ThrfsTer22
NM_000268.4:c.1578_1581del MANE Select	NP_000259.1:p.Glu527ThrfsTer22
NM_181825.3:c.1578_1581del	NP_861546.1:p.Glu527ThrfsTer22
NM_181828.3:c.1452_1455del	NP_861966.1:p.Glu485ThrfsTer22
NM_181829.3:c.1455_1458del	NP_861967.1:p.Glu486ThrfsTer22
NM_181830.3:c.1329_1332del	NP_861968.1:p.Glu444ThrfsTer22
NM_181831.3:c.1329_1332del	NP_861969.1:p.Glu444ThrfsTer22
NM_181832.3:c.1578_1581del	NP_861970.1:p.Glu527ThrfsTer22
NR_156186.2:n.2060_2063del
NM_181833.3:c.448-13310_448-13307del	NP_861971.1:n.448-13310_448-13307del