Canonical Allele Identifier: CA021468
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3284
ClinVar RCV Id: RCV000003445
dbSNP Id: rs587776563

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29668442del , CM000684.2:g.29668442del GRCh38
NC_000022.10:g.30064431del , CM000684.1:g.30064431del GRCh37
NC_000022.9:g.28394431del NCBI36
NG_009057.1:g.69887del , LRG_511:g.69887del

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.860del ENSP00000354529.6:p.Lys287SerfsTer14
ENST00000673312.2:c.*489del ENSP00000500186.2:n.*489del
ENST00000338641.10:c.995del MANE Select ENSP00000344666.5:p.Lys332SerfsTer14
ENST00000361166.9:c.413del ENSP00000354529.5:p.Lys138SerfsTer14
ENST00000672461.1:c.995del ENSP00000500919.1:p.Lys332SerfsTer14
ENST00000672805.1:c.*877del ENSP00000500295.1:n.*877del
ENST00000672896.1:c.995del ENSP00000500117.1:p.Lys332SerfsTer14
ENST00000673312.1:c.1014del ENSP00000500186.1:n.1014del
ENST00000334961.11:c.746del ENSP00000335652.7:p.Lys249SerfsTer14
ENST00000338641.8:c.995del ENSP00000344666.4:p.Lys332SerfsTer14
ENST00000353887.8:c.746del ENSP00000340626.4:p.Lys249SerfsTer14
ENST00000361166.8:c.995del ENSP00000354529.4:p.Lys332SerfsTer14
ENST00000361452.8:c.872del ENSP00000354897.4:p.Lys291SerfsTer14
ENST00000361676.8:c.869del ENSP00000355183.4:p.Lys290SerfsTer14
ENST00000397789.3:c.995del ENSP00000380891.3:p.Lys332SerfsTer14
ENST00000403435.5:c.995del ENSP00000384029.1:p.Lys332SerfsTer3
ENST00000403999.7:c.995del ENSP00000384797.3:p.Lys332SerfsTer14
ENST00000413209.6:c.447+26157del ENSP00000409921.2:n.447+26157del
ENST00000432151.5:c.518del ENSP00000395885.1:p.Lys173SerfsTer?
NM_000268.3:c.995del , LRG_511t1:c.995del NP_000259.1:p.Lys332SerfsTer14
NM_016418.5:c.995del , LRG_511t2:c.995del NP_057502.2:p.Lys332SerfsTer14
NM_181825.2:c.995del NP_861546.1:p.Lys332SerfsTer14
NM_181828.2:c.869del NP_861966.1:p.Lys290SerfsTer14
NM_181829.2:c.872del NP_861967.1:p.Lys291SerfsTer14
NM_181830.2:c.746del NP_861968.1:p.Lys249SerfsTer14
NM_181831.2:c.746del NP_861969.1:p.Lys249SerfsTer14
NM_181832.2:c.995del NP_861970.1:p.Lys332SerfsTer14
NM_181833.2:c.447+26157del NP_861971.1:n.447+26157del
NR_156186.1:n.1554del
XM_017028809.2:c.881del XP_016884298.1:p.Lys294SerfsTer14
XM_017028810.1:c.881del XP_016884299.1:p.Lys294SerfsTer14
NM_000268.4:c.995del MANE Select NP_000259.1:p.Lys332SerfsTer14
NM_181825.3:c.995del NP_861546.1:p.Lys332SerfsTer14
NM_181828.3:c.869del NP_861966.1:p.Lys290SerfsTer14
NM_181829.3:c.872del NP_861967.1:p.Lys291SerfsTer14
NM_181830.3:c.746del NP_861968.1:p.Lys249SerfsTer14
NM_181831.3:c.746del NP_861969.1:p.Lys249SerfsTer14
NM_181832.3:c.995del NP_861970.1:p.Lys332SerfsTer14
NR_156186.2:n.1477del
NM_181833.3:c.447+26157del NP_861971.1:n.447+26157del