Canonical Allele Identifier: CA514191709
Gene: NF2 HGNC NCBI

Linked Data

COSMIC: COSM22296
MyVariant Identifiers: chr22:g.30035184del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29639195del , CM000684.2:g.29639195del GRCh38
NC_000022.10:g.30035184del , CM000684.1:g.30035184del GRCh37
NC_000022.9:g.28365184del NCBI36
NG_009057.1:g.40640del , LRG_511:g.40640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.346del ENSP00000354529.6:p.His116IlefsTer7
ENST00000673312.2:c.346del ENSP00000500186.2:p.His116IlefsTer7
ENST00000338641.10:c.346del MANE Select ENSP00000344666.5:p.His116IlefsTer7
ENST00000672461.1:c.346del ENSP00000500919.1:p.His116IlefsTer7
ENST00000672805.1:c.*228del ENSP00000500295.1:n.*228del
ENST00000672896.1:c.346del ENSP00000500117.1:p.His116IlefsTer7
ENST00000673312.1:c.259del ENSP00000500186.1:p.His87IlefsTer7
ENST00000334961.11:c.115-3007del ENSP00000335652.7:n.115-3007del
ENST00000338641.8:c.346del ENSP00000344666.4:p.His116IlefsTer7
ENST00000353887.8:c.115-3007del ENSP00000340626.4:n.115-3007del
ENST00000361166.8:c.346del ENSP00000354529.4:p.His116IlefsTer7
ENST00000361452.8:c.240+2319del ENSP00000354897.4:n.240+2319del
ENST00000361676.8:c.220del ENSP00000355183.4:p.His74IlefsTer7
ENST00000397789.3:c.346del ENSP00000380891.3:p.His116IlefsTer7
ENST00000403435.5:c.346del ENSP00000384029.1:p.His116IlefsTer7
ENST00000403999.7:c.346del ENSP00000384797.3:p.His116IlefsTer7
ENST00000413209.6:c.346del ENSP00000409921.2:p.His116IlefsTer7
ENST00000432151.5:c.115-3007del ENSP00000395885.1:n.115-3007del
NM_000268.3:c.346del , LRG_511t1:c.346del NP_000259.1:p.His116IlefsTer7
NM_016418.5:c.346del , LRG_511t2:c.346del NP_057502.2:p.His116IlefsTer7
NM_181825.2:c.346del NP_861546.1:p.His116IlefsTer7
NM_181828.2:c.220del NP_861966.1:p.His74IlefsTer7
NM_181829.2:c.240+2319del NP_861967.1:n.240+2319del
NM_181830.2:c.115-3007del NP_861968.1:n.115-3007del
NM_181831.2:c.115-3007del NP_861969.1:n.115-3007del
NM_181832.2:c.346del NP_861970.1:p.His116IlefsTer7
NM_181833.2:c.346del NP_861971.1:p.His116IlefsTer7
NR_156186.1:n.905del
XM_017028809.2:c.232del XP_016884298.1:p.His78IlefsTer7
XM_017028810.1:c.232del XP_016884299.1:p.His78IlefsTer7
NM_000268.4:c.346del MANE Select NP_000259.1:p.His116IlefsTer7
NM_181825.3:c.346del NP_861546.1:p.His116IlefsTer7
NM_181828.3:c.220del NP_861966.1:p.His74IlefsTer7
NM_181829.3:c.240+2319del NP_861967.1:n.240+2319del
NM_181830.3:c.115-3007del NP_861968.1:n.115-3007del
NM_181831.3:c.115-3007del NP_861969.1:n.115-3007del
NM_181832.3:c.346del NP_861970.1:p.His116IlefsTer7
NR_156186.2:n.828del
NM_181833.3:c.346del NP_861971.1:p.His116IlefsTer7