Canonical Allele Identifier: CA514189120
Gene: NF2 HGNC NCBI

Linked Data

COSMIC: COSM23802
MyVariant Identifiers: chr22:g.30074308del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29678319del , CM000684.2:g.29678319del GRCh38
NC_000022.10:g.30074308del , CM000684.1:g.30074308del GRCh37
NC_000022.9:g.28404308del NCBI36
NG_009057.1:g.79764del , LRG_511:g.79764del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1435del ENSP00000354529.6:p.Glu479LysfsTer26
ENST00000673312.2:c.*1064del ENSP00000500186.2:n.*1064del
ENST00000338641.10:c.1570del MANE Select ENSP00000344666.5:p.Glu524LysfsTer26
ENST00000361166.9:c.988del ENSP00000354529.5:p.Glu330LysfsTer26
ENST00000672461.1:c.1570del ENSP00000500919.1:p.Glu524LysfsTer26
ENST00000672805.1:c.*1452del ENSP00000500295.1:n.*1452del
ENST00000672896.1:c.1570del ENSP00000500117.1:p.Glu524LysfsTer26
ENST00000673312.1:c.1589del ENSP00000500186.1:n.1589del
ENST00000334961.11:c.1321del ENSP00000335652.7:p.Glu441LysfsTer26
ENST00000338641.8:c.1570del ENSP00000344666.4:p.Glu524LysfsTer26
ENST00000353887.8:c.1321del ENSP00000340626.4:p.Glu441LysfsTer26
ENST00000361166.8:c.1570del ENSP00000354529.4:p.Glu524LysfsTer26
ENST00000361452.8:c.1447del ENSP00000354897.4:p.Glu483LysfsTer26
ENST00000361676.8:c.1444del ENSP00000355183.4:p.Glu482LysfsTer26
ENST00000397789.3:c.1570del ENSP00000380891.3:p.Glu524LysfsTer26
ENST00000403435.5:c.1483del ENSP00000384029.1:p.Glu495LysfsTer26
ENST00000403999.7:c.1570del ENSP00000384797.3:p.Glu524LysfsTer26
ENST00000413209.6:c.448-16433del ENSP00000409921.2:n.448-16433del
ENST00000432151.5:c.*89del ENSP00000395885.1:n.*89del
NM_000268.3:c.1570del , LRG_511t1:c.1570del NP_000259.1:p.Glu524LysfsTer26
NM_016418.5:c.1570del , LRG_511t2:c.1570del NP_057502.2:p.Glu524LysfsTer26
NM_181825.2:c.1570del NP_861546.1:p.Glu524LysfsTer26
NM_181828.2:c.1444del NP_861966.1:p.Glu482LysfsTer26
NM_181829.2:c.1447del NP_861967.1:p.Glu483LysfsTer26
NM_181830.2:c.1321del NP_861968.1:p.Glu441LysfsTer26
NM_181831.2:c.1321del NP_861969.1:p.Glu441LysfsTer26
NM_181832.2:c.1570del NP_861970.1:p.Glu524LysfsTer26
NM_181833.2:c.448-16433del NP_861971.1:n.448-16433del
NR_156186.1:n.2129del
XM_017028809.2:c.1456del XP_016884298.1:p.Glu486LysfsTer26
XM_017028810.1:c.1456del XP_016884299.1:p.Glu486LysfsTer26
NM_000268.4:c.1570del MANE Select NP_000259.1:p.Glu524LysfsTer26
NM_181825.3:c.1570del NP_861546.1:p.Glu524LysfsTer26
NM_181828.3:c.1444del NP_861966.1:p.Glu482LysfsTer26
NM_181829.3:c.1447del NP_861967.1:p.Glu483LysfsTer26
NM_181830.3:c.1321del NP_861968.1:p.Glu441LysfsTer26
NM_181831.3:c.1321del NP_861969.1:p.Glu441LysfsTer26
NM_181832.3:c.1570del NP_861970.1:p.Glu524LysfsTer26
NR_156186.2:n.2052del
NM_181833.3:c.448-16433del NP_861971.1:n.448-16433del