Canonical Allele Identifier: CA645601075

Gene: NF2

Linked Data

• COSMIC: COSM24172

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661321_29661325del , CM000684.2:g.29661321_29661325del	GRCh38
NC_000022.10:g.30057310_30057314del , CM000684.1:g.30057310_30057314del	GRCh37
NC_000022.9:g.28387310_28387314del	NCBI36
NG_009057.1:g.62766_62770del , LRG_511:g.62766_62770del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+3057_675+3061del	ENSP00000354529.6:n.675+3057_675+3061del
ENST00000673312.2:c.*286_*290del	ENSP00000500186.2:n.*286_*290del
ENST00000338641.10:c.792_796del MANE Select	ENSP00000344666.5:p.Ser265GlnfsTer2
ENST00000361166.9:c.228+3057_228+3061del	ENSP00000354529.5:n.228+3057_228+3061del
ENST00000672461.1:c.792_796del	ENSP00000500919.1:p.Ser265GlnfsTer2
ENST00000672805.1:c.*674_*678del	ENSP00000500295.1:n.*674_*678del
ENST00000672896.1:c.792_796del	ENSP00000500117.1:p.Ser265GlnfsTer2
ENST00000673312.1:c.811_815del	ENSP00000500186.1:n.811_815del
ENST00000334961.11:c.543_547del	ENSP00000335652.7:p.Ser182GlnfsTer2
ENST00000338641.8:c.792_796del	ENSP00000344666.4:p.Ser265GlnfsTer2
ENST00000353887.8:c.543_547del	ENSP00000340626.4:p.Ser182GlnfsTer2
ENST00000361166.8:c.792_796del	ENSP00000354529.4:p.Ser265GlnfsTer2
ENST00000361452.8:c.669_673del	ENSP00000354897.4:p.Ser224GlnfsTer2
ENST00000361676.8:c.666_670del	ENSP00000355183.4:p.Ser223GlnfsTer2
ENST00000397789.3:c.792_796del	ENSP00000380891.3:p.Ser265GlnfsTer2
ENST00000403435.5:c.792_796del	ENSP00000384029.1:p.Ser265GlnfsTer2
ENST00000403999.7:c.792_796del	ENSP00000384797.3:p.Ser265GlnfsTer2
ENST00000413209.6:c.447+19036_447+19040del	ENSP00000409921.2:n.447+19036_447+19040de...
ENST00000432151.5:c.315_319del	ENSP00000395885.1:p.Ser106GlnfsTer2
NM_000268.3:c.792_796del , LRG_511t1:c.792_796del	NP_000259.1:p.Ser265GlnfsTer2
NM_016418.5:c.792_796del , LRG_511t2:c.792_796del	NP_057502.2:p.Ser265GlnfsTer2
NM_181825.2:c.792_796del	NP_861546.1:p.Ser265GlnfsTer2
NM_181828.2:c.666_670del	NP_861966.1:p.Ser223GlnfsTer2
NM_181829.2:c.669_673del	NP_861967.1:p.Ser224GlnfsTer2
NM_181830.2:c.543_547del	NP_861968.1:p.Ser182GlnfsTer2
NM_181831.2:c.543_547del	NP_861969.1:p.Ser182GlnfsTer2
NM_181832.2:c.792_796del	NP_861970.1:p.Ser265GlnfsTer2
NM_181833.2:c.447+19036_447+19040del	NP_861971.1:n.447+19036_447+19040del
NR_156186.1:n.1351_1355del
XM_017028809.2:c.678_682del	XP_016884298.1:p.Ser227GlnfsTer2
XM_017028810.1:c.678_682del	XP_016884299.1:p.Ser227GlnfsTer2
NM_000268.4:c.792_796del MANE Select	NP_000259.1:p.Ser265GlnfsTer2
NM_181825.3:c.792_796del	NP_861546.1:p.Ser265GlnfsTer2
NM_181828.3:c.666_670del	NP_861966.1:p.Ser223GlnfsTer2
NM_181829.3:c.669_673del	NP_861967.1:p.Ser224GlnfsTer2
NM_181830.3:c.543_547del	NP_861968.1:p.Ser182GlnfsTer2
NM_181831.3:c.543_547del	NP_861969.1:p.Ser182GlnfsTer2
NM_181832.3:c.792_796del	NP_861970.1:p.Ser265GlnfsTer2
NR_156186.2:n.1274_1278del
NM_181833.3:c.447+19036_447+19040del	NP_861971.1:n.447+19036_447+19040del