Canonical Allele Identifier: CA514187665

Gene: NF2

Linked Data

• COSMIC: COSM24557
• MyVariant Identifiers: chr22:g.30070836del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674847del , CM000684.2:g.29674847del	GRCh38
NC_000022.10:g.30070836del , CM000684.1:g.30070836del	GRCh37
NC_000022.9:g.28400836del	NCBI36
NG_009057.1:g.76292del , LRG_511:g.76292del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1217del	ENSP00000354529.6:p.Ala406GlufsTer4
ENST00000673312.2:c.*846del	ENSP00000500186.2:n.*846del
ENST00000338641.10:c.1352del MANE Select	ENSP00000344666.5:p.Ala451GlufsTer4
ENST00000361166.9:c.770del	ENSP00000354529.5:p.Ala257GlufsTer4
ENST00000672461.1:c.1352del	ENSP00000500919.1:p.Ala451GlufsTer4
ENST00000672805.1:c.*1234del	ENSP00000500295.1:n.*1234del
ENST00000672896.1:c.1352del	ENSP00000500117.1:p.Ala451GlufsTer4
ENST00000673312.1:c.1371del	ENSP00000500186.1:n.1371del
ENST00000334961.11:c.1103del	ENSP00000335652.7:p.Ala368GlufsTer4
ENST00000338641.8:c.1352del	ENSP00000344666.4:p.Ala451GlufsTer4
ENST00000353887.8:c.1103del	ENSP00000340626.4:p.Ala368GlufsTer4
ENST00000361166.8:c.1352del	ENSP00000354529.4:p.Ala451GlufsTer4
ENST00000361452.8:c.1229del	ENSP00000354897.4:p.Ala410GlufsTer4
ENST00000361676.8:c.1226del	ENSP00000355183.4:p.Ala409GlufsTer4
ENST00000397789.3:c.1352del	ENSP00000380891.3:p.Ala451GlufsTer4
ENST00000403435.5:c.1265del	ENSP00000384029.1:p.Ala422GlufsTer4
ENST00000403999.7:c.1352del	ENSP00000384797.3:p.Ala451GlufsTer4
ENST00000413209.6:c.448-19905del	ENSP00000409921.2:n.448-19905del
ENST00000432151.5:c.534del	ENSP00000395885.1:p.Arg179AspfsTer?
NM_000268.3:c.1352del , LRG_511t1:c.1352del	NP_000259.1:p.Ala451GlufsTer4
NM_016418.5:c.1352del , LRG_511t2:c.1352del	NP_057502.2:p.Ala451GlufsTer4
NM_181825.2:c.1352del	NP_861546.1:p.Ala451GlufsTer4
NM_181828.2:c.1226del	NP_861966.1:p.Ala409GlufsTer4
NM_181829.2:c.1229del	NP_861967.1:p.Ala410GlufsTer4
NM_181830.2:c.1103del	NP_861968.1:p.Ala368GlufsTer4
NM_181831.2:c.1103del	NP_861969.1:p.Ala368GlufsTer4
NM_181832.2:c.1352del	NP_861970.1:p.Ala451GlufsTer4
NM_181833.2:c.448-19905del	NP_861971.1:n.448-19905del
NR_156186.1:n.1911del
XM_017028809.2:c.1238del	XP_016884298.1:p.Ala413GlufsTer4
XM_017028810.1:c.1238del	XP_016884299.1:p.Ala413GlufsTer4
NM_000268.4:c.1352del MANE Select	NP_000259.1:p.Ala451GlufsTer4
NM_181825.3:c.1352del	NP_861546.1:p.Ala451GlufsTer4
NM_181828.3:c.1226del	NP_861966.1:p.Ala409GlufsTer4
NM_181829.3:c.1229del	NP_861967.1:p.Ala410GlufsTer4
NM_181830.3:c.1103del	NP_861968.1:p.Ala368GlufsTer4
NM_181831.3:c.1103del	NP_861969.1:p.Ala368GlufsTer4
NM_181832.3:c.1352del	NP_861970.1:p.Ala451GlufsTer4
NR_156186.2:n.1834del
NM_181833.3:c.448-19905del	NP_861971.1:n.448-19905del