Canonical Allele Identifier: CA645601063

Gene: NF2

Linked Data

• COSMIC: COSM5895213 ; COSM5895214

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661241dup , CM000684.2:g.29661241dup	GRCh38
NC_000022.10:g.30057230dup , CM000684.1:g.30057230dup	GRCh37
NC_000022.9:g.28387230dup	NCBI36
NG_009057.1:g.62686dup , LRG_511:g.62686dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+2977dup	ENSP00000354529.6:n.675+2977dup
ENST00000673312.2:c.*206dup	ENSP00000500186.2:n.*206dup
ENST00000338641.10:c.712dup MANE Select	ENSP00000344666.5:p.Ala238GlyfsTer8
ENST00000361166.9:c.228+2977dup	ENSP00000354529.5:n.228+2977dup
ENST00000672461.1:c.712dup	ENSP00000500919.1:p.Ala238GlyfsTer8
ENST00000672805.1:c.*594dup	ENSP00000500295.1:n.*594dup
ENST00000672896.1:c.712dup	ENSP00000500117.1:p.Ala238GlyfsTer8
ENST00000673312.1:c.731dup	ENSP00000500186.1:n.731dup
ENST00000334961.11:c.463dup	ENSP00000335652.7:p.Ala155GlyfsTer8
ENST00000338641.8:c.712dup	ENSP00000344666.4:p.Ala238GlyfsTer8
ENST00000353887.8:c.463dup	ENSP00000340626.4:p.Ala155GlyfsTer8
ENST00000361166.8:c.712dup	ENSP00000354529.4:p.Ala238GlyfsTer8
ENST00000361452.8:c.589dup	ENSP00000354897.4:p.Ala197GlyfsTer8
ENST00000361676.8:c.586dup	ENSP00000355183.4:p.Ala196GlyfsTer8
ENST00000397789.3:c.712dup	ENSP00000380891.3:p.Ala238GlyfsTer8
ENST00000403435.5:c.712dup	ENSP00000384029.1:p.Ala238GlyfsTer8
ENST00000403999.7:c.712dup	ENSP00000384797.3:p.Ala238GlyfsTer8
ENST00000413209.6:c.447+18956dup	ENSP00000409921.2:n.447+18956dup
ENST00000432151.5:c.235dup	ENSP00000395885.1:p.Ala79GlyfsTer8
NM_000268.3:c.712dup , LRG_511t1:c.712dup	NP_000259.1:p.Ala238GlyfsTer8
NM_016418.5:c.712dup , LRG_511t2:c.712dup	NP_057502.2:p.Ala238GlyfsTer8
NM_181825.2:c.712dup	NP_861546.1:p.Ala238GlyfsTer8
NM_181828.2:c.586dup	NP_861966.1:p.Ala196GlyfsTer8
NM_181829.2:c.589dup	NP_861967.1:p.Ala197GlyfsTer8
NM_181830.2:c.463dup	NP_861968.1:p.Ala155GlyfsTer8
NM_181831.2:c.463dup	NP_861969.1:p.Ala155GlyfsTer8
NM_181832.2:c.712dup	NP_861970.1:p.Ala238GlyfsTer8
NM_181833.2:c.447+18956dup	NP_861971.1:n.447+18956dup
NR_156186.1:n.1271dup
XM_017028809.2:c.598dup	XP_016884298.1:p.Ala200GlyfsTer8
XM_017028810.1:c.598dup	XP_016884299.1:p.Ala200GlyfsTer8
NM_000268.4:c.712dup MANE Select	NP_000259.1:p.Ala238GlyfsTer8
NM_181825.3:c.712dup	NP_861546.1:p.Ala238GlyfsTer8
NM_181828.3:c.586dup	NP_861966.1:p.Ala196GlyfsTer8
NM_181829.3:c.589dup	NP_861967.1:p.Ala197GlyfsTer8
NM_181830.3:c.463dup	NP_861968.1:p.Ala155GlyfsTer8
NM_181831.3:c.463dup	NP_861969.1:p.Ala155GlyfsTer8
NM_181832.3:c.712dup	NP_861970.1:p.Ala238GlyfsTer8
NR_156186.2:n.1194dup
NM_181833.3:c.447+18956dup	NP_861971.1:n.447+18956dup