Canonical Allele Identifier: CA514187761
Gene: NF2 HGNC NCBI

Linked Data

COSMIC: COSM22244
MyVariant Identifiers: chr22:g.30070857del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29674868del , CM000684.2:g.29674868del GRCh38
NC_000022.10:g.30070857del , CM000684.1:g.30070857del GRCh37
NC_000022.9:g.28400857del NCBI36
NG_009057.1:g.76313del , LRG_511:g.76313del

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.1238del ENSP00000354529.6:p.Leu413ArgfsTer27
ENST00000673312.2:c.*867del ENSP00000500186.2:n.*867del
ENST00000338641.10:c.1373del MANE Select ENSP00000344666.5:p.Leu458ArgfsTer27
ENST00000361166.9:c.791del ENSP00000354529.5:p.Leu264ArgfsTer27
ENST00000672461.1:c.1373del ENSP00000500919.1:p.Leu458ArgfsTer27
ENST00000672805.1:c.*1255del ENSP00000500295.1:n.*1255del
ENST00000672896.1:c.1373del ENSP00000500117.1:p.Leu458ArgfsTer27
ENST00000673312.1:c.1392del ENSP00000500186.1:n.1392del
ENST00000334961.11:c.1124del ENSP00000335652.7:p.Leu375ArgfsTer27
ENST00000338641.8:c.1373del ENSP00000344666.4:p.Leu458ArgfsTer27
ENST00000353887.8:c.1124del ENSP00000340626.4:p.Leu375ArgfsTer27
ENST00000361166.8:c.1373del ENSP00000354529.4:p.Leu458ArgfsTer27
ENST00000361452.8:c.1250del ENSP00000354897.4:p.Leu417ArgfsTer27
ENST00000361676.8:c.1247del ENSP00000355183.4:p.Leu416ArgfsTer27
ENST00000397789.3:c.1373del ENSP00000380891.3:p.Leu458ArgfsTer27
ENST00000403435.5:c.1286del ENSP00000384029.1:p.Leu429ArgfsTer27
ENST00000403999.7:c.1373del ENSP00000384797.3:p.Leu458ArgfsTer27
ENST00000413209.6:c.448-19884del ENSP00000409921.2:n.448-19884del
ENST00000432151.5:c.555del ENSP00000395885.1:p.Ala186GlnfsTer?
NM_000268.3:c.1373del , LRG_511t1:c.1373del NP_000259.1:p.Leu458ArgfsTer27
NM_016418.5:c.1373del , LRG_511t2:c.1373del NP_057502.2:p.Leu458ArgfsTer27
NM_181825.2:c.1373del NP_861546.1:p.Leu458ArgfsTer27
NM_181828.2:c.1247del NP_861966.1:p.Leu416ArgfsTer27
NM_181829.2:c.1250del NP_861967.1:p.Leu417ArgfsTer27
NM_181830.2:c.1124del NP_861968.1:p.Leu375ArgfsTer27
NM_181831.2:c.1124del NP_861969.1:p.Leu375ArgfsTer27
NM_181832.2:c.1373del NP_861970.1:p.Leu458ArgfsTer27
NM_181833.2:c.448-19884del NP_861971.1:n.448-19884del
NR_156186.1:n.1932del
XM_017028809.2:c.1259del XP_016884298.1:p.Leu420ArgfsTer27
XM_017028810.1:c.1259del XP_016884299.1:p.Leu420ArgfsTer27
NM_000268.4:c.1373del MANE Select NP_000259.1:p.Leu458ArgfsTer27
NM_181825.3:c.1373del NP_861546.1:p.Leu458ArgfsTer27
NM_181828.3:c.1247del NP_861966.1:p.Leu416ArgfsTer27
NM_181829.3:c.1250del NP_861967.1:p.Leu417ArgfsTer27
NM_181830.3:c.1124del NP_861968.1:p.Leu375ArgfsTer27
NM_181831.3:c.1124del NP_861969.1:p.Leu375ArgfsTer27
NM_181832.3:c.1373del NP_861970.1:p.Leu458ArgfsTer27
NR_156186.2:n.1855del
NM_181833.3:c.448-19884del NP_861971.1:n.448-19884del