Canonical Allele Identifier: CA514190390
Gene: NF2 HGNC NCBI

Linked Data

COSMIC: COSM22460
MyVariant Identifiers: chr22:g.30077474del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29681485del , CM000684.2:g.29681485del GRCh38
NC_000022.10:g.30077474del , CM000684.1:g.30077474del GRCh37
NC_000022.9:g.28407474del NCBI36
NG_009057.1:g.82930del , LRG_511:g.82930del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1486del ENSP00000354529.6:p.Glu496AsnfsTer9
ENST00000673312.2:c.*1115del ENSP00000500186.2:n.*1115del
ENST00000338641.10:c.1621del MANE Select ENSP00000344666.5:p.Glu541AsnfsTer9
ENST00000361166.9:c.1039del ENSP00000354529.5:p.Glu347AsnfsTer9
ENST00000672461.1:c.1621del ENSP00000500919.1:p.Glu541AsnfsTer9
ENST00000672805.1:c.*1503del ENSP00000500295.1:n.*1503del
ENST00000672896.1:c.1621del ENSP00000500117.1:p.Glu541AsnfsTer9
ENST00000673312.1:c.1640del ENSP00000500186.1:n.1640del
ENST00000334961.11:c.1372del ENSP00000335652.7:p.Glu458AsnfsTer9
ENST00000338641.8:c.1621del ENSP00000344666.4:p.Glu541AsnfsTer9
ENST00000353887.8:c.1372del ENSP00000340626.4:p.Glu458AsnfsTer9
ENST00000361166.8:c.1621del ENSP00000354529.4:p.Glu541AsnfsTer9
ENST00000361452.8:c.1498del ENSP00000354897.4:p.Glu500AsnfsTer9
ENST00000361676.8:c.1495del ENSP00000355183.4:p.Glu499AsnfsTer9
ENST00000397789.3:c.1621del ENSP00000380891.3:p.Glu541AsnfsTer9
ENST00000403435.5:c.1534del ENSP00000384029.1:p.Glu512AsnfsTer9
ENST00000403999.7:c.1621del ENSP00000384797.3:p.Glu541AsnfsTer9
ENST00000413209.6:c.448-13267del ENSP00000409921.2:n.448-13267del
ENST00000432151.5:c.*93+3162del ENSP00000395885.1:n.*93+3162del
NM_000268.3:c.1621del , LRG_511t1:c.1621del NP_000259.1:p.Glu541AsnfsTer9
NM_016418.5:c.1621del , LRG_511t2:c.1621del NP_057502.2:p.Glu541AsnfsTer9
NM_181825.2:c.1621del NP_861546.1:p.Glu541AsnfsTer9
NM_181828.2:c.1495del NP_861966.1:p.Glu499AsnfsTer9
NM_181829.2:c.1498del NP_861967.1:p.Glu500AsnfsTer9
NM_181830.2:c.1372del NP_861968.1:p.Glu458AsnfsTer9
NM_181831.2:c.1372del NP_861969.1:p.Glu458AsnfsTer9
NM_181832.2:c.1621del NP_861970.1:p.Glu541AsnfsTer9
NM_181833.2:c.448-13267del NP_861971.1:n.448-13267del
NR_156186.1:n.2180del
XM_017028809.2:c.1507del XP_016884298.1:p.Glu503AsnfsTer9
XM_017028810.1:c.1507del XP_016884299.1:p.Glu503AsnfsTer9
NM_000268.4:c.1621del MANE Select NP_000259.1:p.Glu541AsnfsTer9
NM_181825.3:c.1621del NP_861546.1:p.Glu541AsnfsTer9
NM_181828.3:c.1495del NP_861966.1:p.Glu499AsnfsTer9
NM_181829.3:c.1498del NP_861967.1:p.Glu500AsnfsTer9
NM_181830.3:c.1372del NP_861968.1:p.Glu458AsnfsTer9
NM_181831.3:c.1372del NP_861969.1:p.Glu458AsnfsTer9
NM_181832.3:c.1621del NP_861970.1:p.Glu541AsnfsTer9
NR_156186.2:n.2103del
NM_181833.3:c.448-13267del NP_861971.1:n.448-13267del