Canonical Allele Identifier: CA915940524
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1803112
ClinVar RCV Id: RCV002466782

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29654685del , CM000684.2:g.29654685del GRCh38
NC_000022.10:g.30050674del , CM000684.1:g.30050674del GRCh37
NC_000022.9:g.28380674del NCBI36
NG_009057.1:g.56130del , LRG_511:g.56130del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.476del ENSP00000354529.6:p.Lys159SerfsTer15
ENST00000673312.2:c.476del ENSP00000500186.2:p.Lys159SerfsTer17
ENST00000338641.10:c.476del MANE Select ENSP00000344666.5:p.Lys159SerfsTer15
ENST00000361166.9:c.29del ENSP00000354529.5:p.Lys10SerfsTer15
ENST00000672461.1:c.476del ENSP00000500919.1:p.Lys159SerfsTer15
ENST00000672805.1:c.*358del ENSP00000500295.1:n.*358del
ENST00000672896.1:c.476del ENSP00000500117.1:p.Lys159SerfsTer15
ENST00000673312.1:c.389del ENSP00000500186.1:p.Lys130SerfsTer17
ENST00000334961.11:c.227del ENSP00000335652.7:p.Lys76SerfsTer15
ENST00000338641.8:c.476del ENSP00000344666.4:p.Lys159SerfsTer15
ENST00000353887.8:c.227del ENSP00000340626.4:p.Lys76SerfsTer15
ENST00000361166.8:c.476del ENSP00000354529.4:p.Lys159SerfsTer15
ENST00000361452.8:c.353del ENSP00000354897.4:p.Lys118SerfsTer15
ENST00000361676.8:c.350del ENSP00000355183.4:p.Lys117SerfsTer15
ENST00000397789.3:c.476del ENSP00000380891.3:p.Lys159SerfsTer15
ENST00000403435.5:c.476del ENSP00000384029.1:p.Lys159SerfsTer15
ENST00000403999.7:c.476del ENSP00000384797.3:p.Lys159SerfsTer15
ENST00000413209.6:c.447+12400del ENSP00000409921.2:n.447+12400del
ENST00000432151.5:c.199-6520del ENSP00000395885.1:n.199-6520del
NM_000268.3:c.476del , LRG_511t1:c.476del NP_000259.1:p.Lys159SerfsTer15
NM_016418.5:c.476del , LRG_511t2:c.476del NP_057502.2:p.Lys159SerfsTer15
NM_181825.2:c.476del NP_861546.1:p.Lys159SerfsTer15
NM_181828.2:c.350del NP_861966.1:p.Lys117SerfsTer15
NM_181829.2:c.353del NP_861967.1:p.Lys118SerfsTer15
NM_181830.2:c.227del NP_861968.1:p.Lys76SerfsTer15
NM_181831.2:c.227del NP_861969.1:p.Lys76SerfsTer15
NM_181832.2:c.476del NP_861970.1:p.Lys159SerfsTer15
NM_181833.2:c.447+12400del NP_861971.1:n.447+12400del
NR_156186.1:n.1035del
XM_017028809.2:c.362del XP_016884298.1:p.Lys121SerfsTer15
XM_017028810.1:c.362del XP_016884299.1:p.Lys121SerfsTer15
NM_000268.4:c.476del MANE Select NP_000259.1:p.Lys159SerfsTer15
NM_181825.3:c.476del NP_861546.1:p.Lys159SerfsTer15
NM_181828.3:c.350del NP_861966.1:p.Lys117SerfsTer15
NM_181829.3:c.353del NP_861967.1:p.Lys118SerfsTer15
NM_181830.3:c.227del NP_861968.1:p.Lys76SerfsTer15
NM_181831.3:c.227del NP_861969.1:p.Lys76SerfsTer15
NM_181832.3:c.476del NP_861970.1:p.Lys159SerfsTer15
NR_156186.2:n.958del
NM_181833.3:c.447+12400del NP_861971.1:n.447+12400del