Canonical Allele Identifier: CA514185787
Gene: NF2 HGNC NCBI

Linked Data

COSMIC: COSM22320
MyVariant Identifiers: chr22:g.30069267del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29673278del , CM000684.2:g.29673278del GRCh38
NC_000022.10:g.30069267del , CM000684.1:g.30069267del GRCh37
NC_000022.9:g.28399267del NCBI36
NG_009057.1:g.74723del , LRG_511:g.74723del

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.997del ENSP00000354529.6:p.Glu333ArgfsTer?
ENST00000673312.2:c.*626del ENSP00000500186.2:n.*626del
ENST00000338641.10:c.1132del MANE Select ENSP00000344666.5:p.Glu378ArgfsTer?
ENST00000361166.9:c.550del ENSP00000354529.5:p.Glu184ArgfsTer?
ENST00000672461.1:c.1132del ENSP00000500919.1:p.Glu378ArgfsTer?
ENST00000672805.1:c.*1014del ENSP00000500295.1:n.*1014del
ENST00000672896.1:c.1132del ENSP00000500117.1:p.Glu378ArgfsTer?
ENST00000673312.1:c.1151del ENSP00000500186.1:n.1151del
ENST00000334961.11:c.883del ENSP00000335652.7:p.Glu295ArgfsTer?
ENST00000338641.8:c.1132del ENSP00000344666.4:p.Glu378ArgfsTer?
ENST00000353887.8:c.883del ENSP00000340626.4:p.Glu295ArgfsTer?
ENST00000361166.8:c.1132del ENSP00000354529.4:p.Glu378ArgfsTer?
ENST00000361452.8:c.1009del ENSP00000354897.4:p.Glu337ArgfsTer?
ENST00000361676.8:c.1006del ENSP00000355183.4:p.Glu336ArgfsTer?
ENST00000397789.3:c.1132del ENSP00000380891.3:p.Glu378ArgfsTer?
ENST00000403435.5:c.1045del ENSP00000384029.1:p.Glu349ArgfsTer?
ENST00000403999.7:c.1132del ENSP00000384797.3:p.Glu378ArgfsTer?
ENST00000413209.6:c.448-21474del ENSP00000409921.2:n.448-21474del
ENST00000432151.5:c.523-1558del ENSP00000395885.1:n.523-1558del
NM_000268.3:c.1132del , LRG_511t1:c.1132del NP_000259.1:p.Glu378ArgfsTer?
NM_016418.5:c.1132del , LRG_511t2:c.1132del NP_057502.2:p.Glu378ArgfsTer?
NM_181825.2:c.1132del NP_861546.1:p.Glu378ArgfsTer?
NM_181828.2:c.1006del NP_861966.1:p.Glu336ArgfsTer?
NM_181829.2:c.1009del NP_861967.1:p.Glu337ArgfsTer?
NM_181830.2:c.883del NP_861968.1:p.Glu295ArgfsTer?
NM_181831.2:c.883del NP_861969.1:p.Glu295ArgfsTer?
NM_181832.2:c.1132del NP_861970.1:p.Glu378ArgfsTer?
NM_181833.2:c.448-21474del NP_861971.1:n.448-21474del
NR_156186.1:n.1691del
XM_017028809.2:c.1018del XP_016884298.1:p.Glu340ArgfsTer?
XM_017028810.1:c.1018del XP_016884299.1:p.Glu340ArgfsTer?
NM_000268.4:c.1132del MANE Select NP_000259.1:p.Glu378ArgfsTer?
NM_181825.3:c.1132del NP_861546.1:p.Glu378ArgfsTer?
NM_181828.3:c.1006del NP_861966.1:p.Glu336ArgfsTer?
NM_181829.3:c.1009del NP_861967.1:p.Glu337ArgfsTer?
NM_181830.3:c.883del NP_861968.1:p.Glu295ArgfsTer?
NM_181831.3:c.883del NP_861969.1:p.Glu295ArgfsTer?
NM_181832.3:c.1132del NP_861970.1:p.Glu378ArgfsTer?
NR_156186.2:n.1614del
NM_181833.3:c.448-21474del NP_861971.1:n.448-21474del