Canonical Allele Identifier: CA514191635
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2838592
ClinVar RCV Id: RCV003608146
COSMIC: COSM23857
MyVariant Identifiers: chr22:g.30035127del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29639139del , CM000684.2:g.29639139del GRCh38
NC_000022.10:g.30035128del , CM000684.1:g.30035128del GRCh37
NC_000022.9:g.28365128del NCBI36
NG_009057.1:g.40584del , LRG_511:g.40584del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.290del ENSP00000354529.6:p.Leu97TrpfsTer26
ENST00000673312.2:c.290del ENSP00000500186.2:p.Leu97TrpfsTer26
ENST00000338641.10:c.290del MANE Select ENSP00000344666.5:p.Leu97TrpfsTer26
ENST00000672461.1:c.290del ENSP00000500919.1:p.Leu97TrpfsTer26
ENST00000672805.1:c.*172del ENSP00000500295.1:n.*172del
ENST00000672896.1:c.290del ENSP00000500117.1:p.Leu97TrpfsTer26
ENST00000673312.1:c.203del ENSP00000500186.1:p.Leu68TrpfsTer26
ENST00000334961.11:c.115-3063del ENSP00000335652.7:n.115-3063del
ENST00000338641.8:c.290del ENSP00000344666.4:p.Leu97TrpfsTer26
ENST00000353887.8:c.115-3063del ENSP00000340626.4:n.115-3063del
ENST00000361166.8:c.290del ENSP00000354529.4:p.Leu97TrpfsTer26
ENST00000361452.8:c.240+2263del ENSP00000354897.4:n.240+2263del
ENST00000361676.8:c.164del ENSP00000355183.4:p.Leu55TrpfsTer26
ENST00000397789.3:c.290del ENSP00000380891.3:p.Leu97TrpfsTer26
ENST00000403435.5:c.290del ENSP00000384029.1:p.Leu97TrpfsTer26
ENST00000403999.7:c.290del ENSP00000384797.3:p.Leu97TrpfsTer26
ENST00000413209.6:c.290del ENSP00000409921.2:p.Leu97TrpfsTer26
ENST00000432151.5:c.115-3063del ENSP00000395885.1:n.115-3063del
NM_000268.3:c.290del , LRG_511t1:c.290del NP_000259.1:p.Leu97TrpfsTer26
NM_016418.5:c.290del , LRG_511t2:c.290del NP_057502.2:p.Leu97TrpfsTer26
NM_181825.2:c.290del NP_861546.1:p.Leu97TrpfsTer26
NM_181828.2:c.164del NP_861966.1:p.Leu55TrpfsTer26
NM_181829.2:c.240+2263del NP_861967.1:n.240+2263del
NM_181830.2:c.115-3063del NP_861968.1:n.115-3063del
NM_181831.2:c.115-3063del NP_861969.1:n.115-3063del
NM_181832.2:c.290del NP_861970.1:p.Leu97TrpfsTer26
NM_181833.2:c.290del NP_861971.1:p.Leu97TrpfsTer26
NR_156186.1:n.849del
XM_017028809.2:c.176del XP_016884298.1:p.Leu59TrpfsTer26
XM_017028810.1:c.176del XP_016884299.1:p.Leu59TrpfsTer26
NM_000268.4:c.290del MANE Select NP_000259.1:p.Leu97TrpfsTer26
NM_181825.3:c.290del NP_861546.1:p.Leu97TrpfsTer26
NM_181828.3:c.164del NP_861966.1:p.Leu55TrpfsTer26
NM_181829.3:c.240+2263del NP_861967.1:n.240+2263del
NM_181830.3:c.115-3063del NP_861968.1:n.115-3063del
NM_181831.3:c.115-3063del NP_861969.1:n.115-3063del
NM_181832.3:c.290del NP_861970.1:p.Leu97TrpfsTer26
NR_156186.2:n.772del
NM_181833.3:c.290del NP_861971.1:p.Leu97TrpfsTer26