Canonical Allele Identifier: CA2545385379
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29694875_29694877del , CM000684.2:g.29694875_29694877del GRCh38
NC_000022.10:g.30090864_30090866del , CM000684.1:g.30090864_30090866del GRCh37
NC_000022.9:g.28420864_28420866del NCBI36
NG_009057.1:g.96320_96322del , LRG_511:g.96320_96322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.*73_*75del ENSP00000354529.6:n.*73_*75del
ENST00000673312.2:c.*1355_*1357del ENSP00000500186.2:n.*1355_*1357del
ENST00000338641.10:c.*73_*75del MANE Select ENSP00000344666.5:n.*73_*75del
ENST00000361166.9:c.1279_1281del ENSP00000354529.5:n.1279_1281del
ENST00000672461.1:c.*133_*135del ENSP00000500919.1:n.*133_*135del
ENST00000672805.1:c.*1743_*1745del ENSP00000500295.1:n.*1743_*1745del
ENST00000672896.1:c.*133_*135del ENSP00000500117.1:n.*133_*135del
ENST00000673312.1:c.1880_1882del ENSP00000500186.1:n.1880_1882del
ENST00000338641.8:c.*73_*75del ENSP00000344666.4:n.*73_*75del
ENST00000361452.8:c.*133_*135del ENSP00000354897.4:n.*133_*135del
ENST00000413209.6:c.*73_*75del ENSP00000409921.2:n.*73_*75del
ENST00000432151.5:c.*217_*219del ENSP00000395885.1:n.*217_*219del
NM_000268.3:c.*73_*75del , LRG_511t1:c.*73_*75del NP_000259.1:n.*73_*75del
NM_016418.5:c.*133_*135del , LRG_511t2:c.*133_*135del NP_057502.2:n.*133_*135del
NM_181828.2:c.*133_*135del NP_861966.1:n.*133_*135del
NM_181829.2:c.*133_*135del NP_861967.1:n.*133_*135del
NM_181830.2:c.*133_*135del NP_861968.1:n.*133_*135del
NM_181832.2:c.*148_*150del NP_861970.1:n.*148_*150del
NM_181833.2:c.*73_*75del NP_861971.1:n.*73_*75del
NR_156186.1:n.2420_2422del
XM_017028809.2:c.*73_*75del XP_016884298.1:n.*73_*75del
XM_017028810.1:c.*133_*135del XP_016884299.1:n.*133_*135del
NM_000268.4:c.*73_*75del MANE Select NP_000259.1:n.*73_*75del
NM_181828.3:c.*133_*135del NP_861966.1:n.*133_*135del
NM_181829.3:c.*133_*135del NP_861967.1:n.*133_*135del
NM_181830.3:c.*133_*135del NP_861968.1:n.*133_*135del
NM_181832.3:c.*148_*150del NP_861970.1:n.*148_*150del
NR_156186.2:n.2343_2345del
NM_181833.3:c.*73_*75del NP_861971.1:n.*73_*75del