Canonical Allele Identifier: CA021412
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3300
ClinVar RCV Id: RCV000003461
dbSNP Id: rs587776565
COSMIC: COSM22437

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29636841_29636847del , CM000684.2:g.29636841_29636847del GRCh38
NC_000022.10:g.30032830_30032836del , CM000684.1:g.30032830_30032836del GRCh37
NC_000022.9:g.28362830_28362836del NCBI36
NG_009057.1:g.38286_38292del , LRG_511:g.38286_38292del

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.205_211del ENSP00000354529.6:p.Lys69GlnfsTer?
ENST00000673312.2:c.205_211del ENSP00000500186.2:p.Lys69GlnfsTer?
ENST00000338641.10:c.205_211del MANE Select ENSP00000344666.5:p.Lys69GlnfsTer?
ENST00000672461.1:c.205_211del ENSP00000500919.1:p.Lys69GlnfsTer?
ENST00000672805.1:c.*87_*93del ENSP00000500295.1:n.*87_*93del
ENST00000672896.1:c.205_211del ENSP00000500117.1:p.Lys69GlnfsTer?
ENST00000673312.1:c.118_124del ENSP00000500186.1:p.Lys40GlnfsTer?
ENST00000334961.11:c.115-5361_115-5355del ENSP00000335652.7:n.115-5361_115-5355del
ENST00000338641.8:c.205_211del ENSP00000344666.4:p.Lys69GlnfsTer?
ENST00000353887.8:c.115-5361_115-5355del ENSP00000340626.4:n.115-5361_115-5355del
ENST00000361166.8:c.205_211del ENSP00000354529.4:p.Lys69GlnfsTer?
ENST00000361452.8:c.205_211del ENSP00000354897.4:p.Lys69GlnfsTer11
ENST00000361676.8:c.115-2249_115-2243del ENSP00000355183.4:n.115-2249_115-2243del
ENST00000397789.3:c.205_211del ENSP00000380891.3:p.Lys69GlnfsTer?
ENST00000403435.5:c.205_211del ENSP00000384029.1:p.Lys69GlnfsTer?
ENST00000403999.7:c.205_211del ENSP00000384797.3:p.Lys69GlnfsTer?
ENST00000413209.6:c.205_211del ENSP00000409921.2:p.Lys69GlnfsTer?
ENST00000432151.5:c.115-5361_115-5355del ENSP00000395885.1:n.115-5361_115-5355del
NM_000268.3:c.205_211del , LRG_511t1:c.205_211del NP_000259.1:p.Lys69GlnfsTer?
NM_016418.5:c.205_211del , LRG_511t2:c.205_211del NP_057502.2:p.Lys69GlnfsTer?
NM_181825.2:c.205_211del NP_861546.1:p.Lys69GlnfsTer?
NM_181828.2:c.115-2249_115-2243del NP_861966.1:n.115-2249_115-2243del
NM_181829.2:c.205_211del NP_861967.1:p.Lys69GlnfsTer11
NM_181830.2:c.115-5361_115-5355del NP_861968.1:n.115-5361_115-5355del
NM_181831.2:c.115-5361_115-5355del NP_861969.1:n.115-5361_115-5355del
NM_181832.2:c.205_211del NP_861970.1:p.Lys69GlnfsTer?
NM_181833.2:c.205_211del NP_861971.1:p.Lys69GlnfsTer?
NR_156186.1:n.764_770del
XM_017028809.2:c.91_97del XP_016884298.1:p.Lys31GlnfsTer?
XM_017028810.1:c.91_97del XP_016884299.1:p.Lys31GlnfsTer?
NM_000268.4:c.205_211del MANE Select NP_000259.1:p.Lys69GlnfsTer?
NM_181825.3:c.205_211del NP_861546.1:p.Lys69GlnfsTer?
NM_181828.3:c.115-2249_115-2243del NP_861966.1:n.115-2249_115-2243del
NM_181829.3:c.205_211del NP_861967.1:p.Lys69GlnfsTer11
NM_181830.3:c.115-5361_115-5355del NP_861968.1:n.115-5361_115-5355del
NM_181831.3:c.115-5361_115-5355del NP_861969.1:n.115-5361_115-5355del
NM_181832.3:c.205_211del NP_861970.1:p.Lys69GlnfsTer?
NR_156186.2:n.687_693del
NM_181833.3:c.205_211del NP_861971.1:p.Lys69GlnfsTer?