Canonical Allele Identifier: CA1139667048

Gene: NF2

Linked Data

• ClinVar Variation Id: 970254
• ClinVar RCV Id: RCV001245794
• dbSNP Id: rs2065731800

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639168_29639174delinsTAGGATA , CM000684.2:g.29639168_29639174delinsTAGGATA	GRCh38
NC_000022.10:g.30035157_30035163delinsTAGGATA , CM000684.1:g.30035157_30035163delinsTAGGATA	GRCh37
NC_000022.9:g.28365157_28365163delinsTAGGATA	NCBI36
NG_009057.1:g.40613_40619delinsTAGGATA , LRG_511:g.40613_40619delinsTAGGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.319_325delinsTAGGATA	ENSP00000354529.6:p.Glu107Ter
ENST00000673312.2:c.319_325delinsTAGGATA	ENSP00000500186.2:p.Glu107Ter
ENST00000338641.10:c.319_325delinsTAGGATA MANE Select	ENSP00000344666.5:p.Glu107Ter
ENST00000672461.1:c.319_325delinsTAGGATA	ENSP00000500919.1:p.Glu107Ter
ENST00000672805.1:c.*201_*207delinsTAGGATA	ENSP00000500295.1:n.*201_*207delinsTAGGATA
ENST00000672896.1:c.319_325delinsTAGGATA	ENSP00000500117.1:p.Glu107Ter
ENST00000673312.1:c.232_238delinsTAGGATA	ENSP00000500186.1:p.Glu78Ter
ENST00000334961.11:c.115-3034_115-3028delinsTAGGATA	ENSP00000335652.7:n.115-3034_115-3028delinsTAGGATA
ENST00000338641.8:c.319_325delinsTAGGATA	ENSP00000344666.4:p.Glu107Ter
ENST00000353887.8:c.115-3034_115-3028delinsTAGGATA	ENSP00000340626.4:n.115-3034_115-3028delinsTAGGATA
ENST00000361166.8:c.319_325delinsTAGGATA	ENSP00000354529.4:p.Glu107Ter
ENST00000361452.8:c.240+2292_240+2298delinsTAGGATA	ENSP00000354897.4:n.240+2292_240+2298delinsTAGGATA
ENST00000361676.8:c.193_199delinsTAGGATA	ENSP00000355183.4:p.Glu65Ter
ENST00000397789.3:c.319_325delinsTAGGATA	ENSP00000380891.3:p.Glu107Ter
ENST00000403435.5:c.319_325delinsTAGGATA	ENSP00000384029.1:p.Glu107Ter
ENST00000403999.7:c.319_325delinsTAGGATA	ENSP00000384797.3:p.Glu107Ter
ENST00000413209.6:c.319_325delinsTAGGATA	ENSP00000409921.2:p.Glu107Ter
ENST00000432151.5:c.115-3034_115-3028delinsTAGGATA	ENSP00000395885.1:n.115-3034_115-3028delinsTAGGATA
NM_000268.3:c.319_325delinsTAGGATA , LRG_511t1:c.319_325delinsTAGGATA	NP_000259.1:p.Glu107Ter
NM_016418.5:c.319_325delinsTAGGATA , LRG_511t2:c.319_325delinsTAGGATA	NP_057502.2:p.Glu107Ter
NM_181825.2:c.319_325delinsTAGGATA	NP_861546.1:p.Glu107Ter
NM_181828.2:c.193_199delinsTAGGATA	NP_861966.1:p.Glu65Ter
NM_181829.2:c.240+2292_240+2298delinsTAGGATA	NP_861967.1:n.240+2292_240+2298delinsTAGGATA
NM_181830.2:c.115-3034_115-3028delinsTAGGATA	NP_861968.1:n.115-3034_115-3028delinsTAGGATA
NM_181831.2:c.115-3034_115-3028delinsTAGGATA	NP_861969.1:n.115-3034_115-3028delinsTAGGATA
NM_181832.2:c.319_325delinsTAGGATA	NP_861970.1:p.Glu107Ter
NM_181833.2:c.319_325delinsTAGGATA	NP_861971.1:p.Glu107Ter
NR_156186.1:n.878_884delinsTAGGATA
XM_017028809.2:c.205_211delinsTAGGATA	XP_016884298.1:p.Glu69Ter
XM_017028810.1:c.205_211delinsTAGGATA	XP_016884299.1:p.Glu69Ter
NM_000268.4:c.319_325delinsTAGGATA MANE Select	NP_000259.1:p.Glu107Ter
NM_181825.3:c.319_325delinsTAGGATA	NP_861546.1:p.Glu107Ter
NM_181828.3:c.193_199delinsTAGGATA	NP_861966.1:p.Glu65Ter
NM_181829.3:c.240+2292_240+2298delinsTAGGATA	NP_861967.1:n.240+2292_240+2298delinsTAGGATA
NM_181830.3:c.115-3034_115-3028delinsTAGGATA	NP_861968.1:n.115-3034_115-3028delinsTAGGATA
NM_181831.3:c.115-3034_115-3028delinsTAGGATA	NP_861969.1:n.115-3034_115-3028delinsTAGGATA
NM_181832.3:c.319_325delinsTAGGATA	NP_861970.1:p.Glu107Ter
NR_156186.2:n.801_807delinsTAGGATA
NM_181833.3:c.319_325delinsTAGGATA	NP_861971.1:p.Glu107Ter