Canonical Allele Identifier: CA645600998

Gene: NF2

Linked Data

• COSMIC: COSM1235358

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654674_29654683del , CM000684.2:g.29654674_29654683del	GRCh38
NC_000022.10:g.30050663_30050672del , CM000684.1:g.30050663_30050672del	GRCh37
NC_000022.9:g.28380663_28380672del	NCBI36
NG_009057.1:g.56119_56128del , LRG_511:g.56119_56128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.465_474del	ENSP00000354529.6:p.Val157GlyfsTer14
ENST00000673312.2:c.465_474del	ENSP00000500186.2:p.Val157GlyfsTer16
ENST00000338641.10:c.465_474del MANE Select	ENSP00000344666.5:p.Val157GlyfsTer14
ENST00000361166.9:c.18_27del	ENSP00000354529.5:p.Val8GlyfsTer14
ENST00000672461.1:c.465_474del	ENSP00000500919.1:p.Val157GlyfsTer14
ENST00000672805.1:c.*347_*356del	ENSP00000500295.1:n.*347_*356del
ENST00000672896.1:c.465_474del	ENSP00000500117.1:p.Val157GlyfsTer14
ENST00000673312.1:c.378_387del	ENSP00000500186.1:p.Val128GlyfsTer16
ENST00000334961.11:c.216_225del	ENSP00000335652.7:p.Val74GlyfsTer14
ENST00000338641.8:c.465_474del	ENSP00000344666.4:p.Val157GlyfsTer14
ENST00000353887.8:c.216_225del	ENSP00000340626.4:p.Val74GlyfsTer14
ENST00000361166.8:c.465_474del	ENSP00000354529.4:p.Val157GlyfsTer14
ENST00000361452.8:c.342_351del	ENSP00000354897.4:p.Val116GlyfsTer14
ENST00000361676.8:c.339_348del	ENSP00000355183.4:p.Val115GlyfsTer14
ENST00000397789.3:c.465_474del	ENSP00000380891.3:p.Val157GlyfsTer14
ENST00000403435.5:c.465_474del	ENSP00000384029.1:p.Val157GlyfsTer14
ENST00000403999.7:c.465_474del	ENSP00000384797.3:p.Val157GlyfsTer14
ENST00000413209.6:c.447+12389_447+12398del	ENSP00000409921.2:n.447+12389_447+12398del
ENST00000432151.5:c.199-6531_199-6522del	ENSP00000395885.1:n.199-6531_199-6522del
NM_000268.3:c.465_474del , LRG_511t1:c.465_474del	NP_000259.1:p.Val157GlyfsTer14
NM_016418.5:c.465_474del , LRG_511t2:c.465_474del	NP_057502.2:p.Val157GlyfsTer14
NM_181825.2:c.465_474del	NP_861546.1:p.Val157GlyfsTer14
NM_181828.2:c.339_348del	NP_861966.1:p.Val115GlyfsTer14
NM_181829.2:c.342_351del	NP_861967.1:p.Val116GlyfsTer14
NM_181830.2:c.216_225del	NP_861968.1:p.Val74GlyfsTer14
NM_181831.2:c.216_225del	NP_861969.1:p.Val74GlyfsTer14
NM_181832.2:c.465_474del	NP_861970.1:p.Val157GlyfsTer14
NM_181833.2:c.447+12389_447+12398del	NP_861971.1:n.447+12389_447+12398del
NR_156186.1:n.1024_1033del
XM_017028809.2:c.351_360del	XP_016884298.1:p.Val119GlyfsTer14
XM_017028810.1:c.351_360del	XP_016884299.1:p.Val119GlyfsTer14
NM_000268.4:c.465_474del MANE Select	NP_000259.1:p.Val157GlyfsTer14
NM_181825.3:c.465_474del	NP_861546.1:p.Val157GlyfsTer14
NM_181828.3:c.339_348del	NP_861966.1:p.Val115GlyfsTer14
NM_181829.3:c.342_351del	NP_861967.1:p.Val116GlyfsTer14
NM_181830.3:c.216_225del	NP_861968.1:p.Val74GlyfsTer14
NM_181831.3:c.216_225del	NP_861969.1:p.Val74GlyfsTer14
NM_181832.3:c.465_474del	NP_861970.1:p.Val157GlyfsTer14
NR_156186.2:n.947_956del
NM_181833.3:c.447+12389_447+12398del	NP_861971.1:n.447+12389_447+12398del