Canonical Allele Identifier: CA645601122

Gene: NF2

Linked Data

• COSMIC: COSM51510

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673295_29673296del , CM000684.2:g.29673295_29673296del	GRCh38
NC_000022.10:g.30069284_30069285del , CM000684.1:g.30069284_30069285del	GRCh37
NC_000022.9:g.28399284_28399285del	NCBI36
NG_009057.1:g.74740_74741del , LRG_511:g.74740_74741del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1014_1015del	ENSP00000354529.6:p.Leu339GlyfsTer2
ENST00000673312.2:c.*643_*644del	ENSP00000500186.2:n.*643_*644del
ENST00000338641.10:c.1149_1150del MANE Select	ENSP00000344666.5:p.Leu384GlyfsTer2
ENST00000361166.9:c.567_568del	ENSP00000354529.5:p.Leu190GlyfsTer2
ENST00000672461.1:c.1149_1150del	ENSP00000500919.1:p.Leu384GlyfsTer2
ENST00000672805.1:c.*1031_*1032del	ENSP00000500295.1:n.*1031_*1032del
ENST00000672896.1:c.1149_1150del	ENSP00000500117.1:p.Leu384GlyfsTer2
ENST00000673312.1:c.1168_1169del	ENSP00000500186.1:n.1168_1169del
ENST00000334961.11:c.900_901del	ENSP00000335652.7:p.Leu301GlyfsTer2
ENST00000338641.8:c.1149_1150del	ENSP00000344666.4:p.Leu384GlyfsTer2
ENST00000353887.8:c.900_901del	ENSP00000340626.4:p.Leu301GlyfsTer2
ENST00000361166.8:c.1149_1150del	ENSP00000354529.4:p.Leu384GlyfsTer2
ENST00000361452.8:c.1026_1027del	ENSP00000354897.4:p.Leu343GlyfsTer2
ENST00000361676.8:c.1023_1024del	ENSP00000355183.4:p.Leu342GlyfsTer2
ENST00000397789.3:c.1149_1150del	ENSP00000380891.3:p.Leu384GlyfsTer2
ENST00000403435.5:c.1062_1063del	ENSP00000384029.1:p.Leu355GlyfsTer2
ENST00000403999.7:c.1149_1150del	ENSP00000384797.3:p.Leu384GlyfsTer2
ENST00000413209.6:c.448-21457_448-21456del	ENSP00000409921.2:n.448-21457_448-21456del
ENST00000432151.5:c.523-1541_523-1540del	ENSP00000395885.1:n.523-1541_523-1540del
NM_000268.3:c.1149_1150del , LRG_511t1:c.1149_1150del	NP_000259.1:p.Leu384GlyfsTer2
NM_016418.5:c.1149_1150del , LRG_511t2:c.1149_1150del	NP_057502.2:p.Leu384GlyfsTer2
NM_181825.2:c.1149_1150del	NP_861546.1:p.Leu384GlyfsTer2
NM_181828.2:c.1023_1024del	NP_861966.1:p.Leu342GlyfsTer2
NM_181829.2:c.1026_1027del	NP_861967.1:p.Leu343GlyfsTer2
NM_181830.2:c.900_901del	NP_861968.1:p.Leu301GlyfsTer2
NM_181831.2:c.900_901del	NP_861969.1:p.Leu301GlyfsTer2
NM_181832.2:c.1149_1150del	NP_861970.1:p.Leu384GlyfsTer2
NM_181833.2:c.448-21457_448-21456del	NP_861971.1:n.448-21457_448-21456del
NR_156186.1:n.1708_1709del
XM_017028809.2:c.1035_1036del	XP_016884298.1:p.Leu346GlyfsTer2
XM_017028810.1:c.1035_1036del	XP_016884299.1:p.Leu346GlyfsTer2
NM_000268.4:c.1149_1150del MANE Select	NP_000259.1:p.Leu384GlyfsTer2
NM_181825.3:c.1149_1150del	NP_861546.1:p.Leu384GlyfsTer2
NM_181828.3:c.1023_1024del	NP_861966.1:p.Leu342GlyfsTer2
NM_181829.3:c.1026_1027del	NP_861967.1:p.Leu343GlyfsTer2
NM_181830.3:c.900_901del	NP_861968.1:p.Leu301GlyfsTer2
NM_181831.3:c.900_901del	NP_861969.1:p.Leu301GlyfsTer2
NM_181832.3:c.1149_1150del	NP_861970.1:p.Leu384GlyfsTer2
NR_156186.2:n.1631_1632del
NM_181833.3:c.448-21457_448-21456del	NP_861971.1:n.448-21457_448-21456del