Canonical Allele Identifier: CA514191567

Gene: NF2

Linked Data

• COSMIC: COSM22464
• MyVariant Identifiers: chr22:g.30035103_30035104insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639114dup , CM000684.2:g.29639114dup	GRCh38
NC_000022.10:g.30035103dup , CM000684.1:g.30035103dup	GRCh37
NC_000022.9:g.28365103dup	NCBI36
NG_009057.1:g.40559dup , LRG_511:g.40559dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.265dup	ENSP00000354529.6:p.Glu89GlyfsTer15
ENST00000673312.2:c.265dup	ENSP00000500186.2:p.Glu89GlyfsTer15
ENST00000338641.10:c.265dup MANE Select	ENSP00000344666.5:p.Glu89GlyfsTer15
ENST00000672461.1:c.265dup	ENSP00000500919.1:p.Glu89GlyfsTer15
ENST00000672805.1:c.*147dup	ENSP00000500295.1:n.*147dup
ENST00000672896.1:c.265dup	ENSP00000500117.1:p.Glu89GlyfsTer15
ENST00000673312.1:c.178dup	ENSP00000500186.1:p.Glu60GlyfsTer15
ENST00000334961.11:c.115-3088dup	ENSP00000335652.7:n.115-3088dup
ENST00000338641.8:c.265dup	ENSP00000344666.4:p.Glu89GlyfsTer15
ENST00000353887.8:c.115-3088dup	ENSP00000340626.4:n.115-3088dup
ENST00000361166.8:c.265dup	ENSP00000354529.4:p.Glu89GlyfsTer15
ENST00000361452.8:c.240+2238dup	ENSP00000354897.4:n.240+2238dup
ENST00000361676.8:c.139dup	ENSP00000355183.4:p.Glu47GlyfsTer15
ENST00000397789.3:c.265dup	ENSP00000380891.3:p.Glu89GlyfsTer15
ENST00000403435.5:c.265dup	ENSP00000384029.1:p.Glu89GlyfsTer15
ENST00000403999.7:c.265dup	ENSP00000384797.3:p.Glu89GlyfsTer15
ENST00000413209.6:c.265dup	ENSP00000409921.2:p.Glu89GlyfsTer15
ENST00000432151.5:c.115-3088dup	ENSP00000395885.1:n.115-3088dup
NM_000268.3:c.265dup , LRG_511t1:c.265dup	NP_000259.1:p.Glu89GlyfsTer15
NM_016418.5:c.265dup , LRG_511t2:c.265dup	NP_057502.2:p.Glu89GlyfsTer15
NM_181825.2:c.265dup	NP_861546.1:p.Glu89GlyfsTer15
NM_181828.2:c.139dup	NP_861966.1:p.Glu47GlyfsTer15
NM_181829.2:c.240+2238dup	NP_861967.1:n.240+2238dup
NM_181830.2:c.115-3088dup	NP_861968.1:n.115-3088dup
NM_181831.2:c.115-3088dup	NP_861969.1:n.115-3088dup
NM_181832.2:c.265dup	NP_861970.1:p.Glu89GlyfsTer15
NM_181833.2:c.265dup	NP_861971.1:p.Glu89GlyfsTer15
NR_156186.1:n.824dup
XM_017028809.2:c.151dup	XP_016884298.1:p.Glu51GlyfsTer15
XM_017028810.1:c.151dup	XP_016884299.1:p.Glu51GlyfsTer15
NM_000268.4:c.265dup MANE Select	NP_000259.1:p.Glu89GlyfsTer15
NM_181825.3:c.265dup	NP_861546.1:p.Glu89GlyfsTer15
NM_181828.3:c.139dup	NP_861966.1:p.Glu47GlyfsTer15
NM_181829.3:c.240+2238dup	NP_861967.1:n.240+2238dup
NM_181830.3:c.115-3088dup	NP_861968.1:n.115-3088dup
NM_181831.3:c.115-3088dup	NP_861969.1:n.115-3088dup
NM_181832.3:c.265dup	NP_861970.1:p.Glu89GlyfsTer15
NR_156186.2:n.747dup
NM_181833.3:c.265dup	NP_861971.1:p.Glu89GlyfsTer15