Canonical Allele Identifier: CA645600895

Gene: NF2

Linked Data

• ClinVar Variation Id: 547704
• ClinVar RCV Id: RCV000660131
• dbSNP Id: rs1555987732
• COSMIC: COSM22189 ; COSM22311 ; COSM1685289
• MyVariant Identifiers: chr22:g.30035195_30035197del (hg19) ; chr22:g.29639206_29639208del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639206_29639208del , CM000684.2:g.29639206_29639208del	GRCh38
NC_000022.10:g.30035195_30035197del , CM000684.1:g.30035195_30035197del	GRCh37
NC_000022.9:g.28365195_28365197del	NCBI36
NG_009057.1:g.40651_40653del , LRG_511:g.40651_40653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.357_359del	ENSP00000354529.6:p.Phe119del
ENST00000673312.2:c.357_359del	ENSP00000500186.2:p.Phe119del
ENST00000338641.10:c.357_359del MANE Select	ENSP00000344666.5:p.Phe119del
ENST00000672461.1:c.357_359del	ENSP00000500919.1:p.Phe119del
ENST00000672805.1:c.*239_*241del	ENSP00000500295.1:n.*239_*241del
ENST00000672896.1:c.357_359del	ENSP00000500117.1:p.Phe119del
ENST00000673312.1:c.270_272del	ENSP00000500186.1:p.Phe90del
ENST00000334961.11:c.115-2996_115-2994del	ENSP00000335652.7:n.115-2996_115-2994del
ENST00000338641.8:c.357_359del	ENSP00000344666.4:p.Phe119del
ENST00000353887.8:c.115-2996_115-2994del	ENSP00000340626.4:n.115-2996_115-2994del
ENST00000361166.8:c.357_359del	ENSP00000354529.4:p.Phe119del
ENST00000361452.8:c.240+2330_240+2332del	ENSP00000354897.4:n.240+2330_240+2332del
ENST00000361676.8:c.231_233del	ENSP00000355183.4:p.Phe77del
ENST00000397789.3:c.357_359del	ENSP00000380891.3:p.Phe119del
ENST00000403435.5:c.357_359del	ENSP00000384029.1:p.Phe119del
ENST00000403999.7:c.357_359del	ENSP00000384797.3:p.Phe119del
ENST00000413209.6:c.357_359del	ENSP00000409921.2:p.Phe119del
ENST00000432151.5:c.115-2996_115-2994del	ENSP00000395885.1:n.115-2996_115-2994del
NM_000268.3:c.357_359del , LRG_511t1:c.357_359del	NP_000259.1:p.Phe119del
NM_016418.5:c.357_359del , LRG_511t2:c.357_359del	NP_057502.2:p.Phe119del
NM_181825.2:c.357_359del	NP_861546.1:p.Phe119del
NM_181828.2:c.231_233del	NP_861966.1:p.Phe77del
NM_181829.2:c.240+2330_240+2332del	NP_861967.1:n.240+2330_240+2332del
NM_181830.2:c.115-2996_115-2994del	NP_861968.1:n.115-2996_115-2994del
NM_181831.2:c.115-2996_115-2994del	NP_861969.1:n.115-2996_115-2994del
NM_181832.2:c.357_359del	NP_861970.1:p.Phe119del
NM_181833.2:c.357_359del	NP_861971.1:p.Phe119del
NR_156186.1:n.916_918del
XM_017028809.2:c.243_245del	XP_016884298.1:p.Phe81del
XM_017028810.1:c.243_245del	XP_016884299.1:p.Phe81del
NM_000268.4:c.357_359del MANE Select	NP_000259.1:p.Phe119del
NM_181825.3:c.357_359del	NP_861546.1:p.Phe119del
NM_181828.3:c.231_233del	NP_861966.1:p.Phe77del
NM_181829.3:c.240+2330_240+2332del	NP_861967.1:n.240+2330_240+2332del
NM_181830.3:c.115-2996_115-2994del	NP_861968.1:n.115-2996_115-2994del
NM_181831.3:c.115-2996_115-2994del	NP_861969.1:n.115-2996_115-2994del
NM_181832.3:c.357_359del	NP_861970.1:p.Phe119del
NR_156186.2:n.839_841del
NM_181833.3:c.357_359del	NP_861971.1:p.Phe119del