Canonical Allele Identifier: CA915951367

Gene: NF2

Linked Data

• ClinVar Variation Id: 823788
• ClinVar RCV Id: RCV001020335 ; RCV001308325 ; RCV003236856
• dbSNP Id: rs1601583772

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639194_29639196del , CM000684.2:g.29639194_29639196del	GRCh38
NC_000022.10:g.30035183_30035185del , CM000684.1:g.30035183_30035185del	GRCh37
NC_000022.9:g.28365183_28365185del	NCBI36
NG_009057.1:g.40639_40641del , LRG_511:g.40639_40641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.345_347del	ENSP00000354529.6:p.Gln115del
ENST00000673312.2:c.345_347del	ENSP00000500186.2:p.Gln115del
ENST00000338641.10:c.345_347del MANE Select	ENSP00000344666.5:p.Gln115del
ENST00000672461.1:c.345_347del	ENSP00000500919.1:p.Gln115del
ENST00000672805.1:c.*227_*229del	ENSP00000500295.1:n.*227_*229del
ENST00000672896.1:c.345_347del	ENSP00000500117.1:p.Gln115del
ENST00000673312.1:c.258_260del	ENSP00000500186.1:p.Gln86del
ENST00000334961.11:c.115-3008_115-3006del	ENSP00000335652.7:n.115-3008_115-3006del
ENST00000338641.8:c.345_347del	ENSP00000344666.4:p.Gln115del
ENST00000353887.8:c.115-3008_115-3006del	ENSP00000340626.4:n.115-3008_115-3006del
ENST00000361166.8:c.345_347del	ENSP00000354529.4:p.Gln115del
ENST00000361452.8:c.240+2318_240+2320del	ENSP00000354897.4:n.240+2318_240+2320del
ENST00000361676.8:c.219_221del	ENSP00000355183.4:p.Gln73del
ENST00000397789.3:c.345_347del	ENSP00000380891.3:p.Gln115del
ENST00000403435.5:c.345_347del	ENSP00000384029.1:p.Gln115del
ENST00000403999.7:c.345_347del	ENSP00000384797.3:p.Gln115del
ENST00000413209.6:c.345_347del	ENSP00000409921.2:p.Gln115del
ENST00000432151.5:c.115-3008_115-3006del	ENSP00000395885.1:n.115-3008_115-3006del
NM_000268.3:c.345_347del , LRG_511t1:c.345_347del	NP_000259.1:p.Gln115del
NM_016418.5:c.345_347del , LRG_511t2:c.345_347del	NP_057502.2:p.Gln115del
NM_181825.2:c.345_347del	NP_861546.1:p.Gln115del
NM_181828.2:c.219_221del	NP_861966.1:p.Gln73del
NM_181829.2:c.240+2318_240+2320del	NP_861967.1:n.240+2318_240+2320del
NM_181830.2:c.115-3008_115-3006del	NP_861968.1:n.115-3008_115-3006del
NM_181831.2:c.115-3008_115-3006del	NP_861969.1:n.115-3008_115-3006del
NM_181832.2:c.345_347del	NP_861970.1:p.Gln115del
NM_181833.2:c.345_347del	NP_861971.1:p.Gln115del
NR_156186.1:n.904_906del
XM_017028809.2:c.231_233del	XP_016884298.1:p.Gln77del
XM_017028810.1:c.231_233del	XP_016884299.1:p.Gln77del
NM_000268.4:c.345_347del MANE Select	NP_000259.1:p.Gln115del
NM_181825.3:c.345_347del	NP_861546.1:p.Gln115del
NM_181828.3:c.219_221del	NP_861966.1:p.Gln73del
NM_181829.3:c.240+2318_240+2320del	NP_861967.1:n.240+2318_240+2320del
NM_181830.3:c.115-3008_115-3006del	NP_861968.1:n.115-3008_115-3006del
NM_181831.3:c.115-3008_115-3006del	NP_861969.1:n.115-3008_115-3006del
NM_181832.3:c.345_347del	NP_861970.1:p.Gln115del
NR_156186.2:n.827_829del
NM_181833.3:c.345_347del	NP_861971.1:p.Gln115del