Canonical Allele Identifier: CA891842391
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29655642dup , CM000684.2:g.29655642dup GRCh38
NC_000022.10:g.30051631dup , CM000684.1:g.30051631dup GRCh37
NC_000022.9:g.28381631dup NCBI36
NG_009057.1:g.57087dup , LRG_511:g.57087dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.565dup ENSP00000354529.6:p.Thr189AsnfsTer14
ENST00000673312.2:c.*59dup ENSP00000500186.2:n.*59dup
ENST00000338641.10:c.565dup MANE Select ENSP00000344666.5:p.Thr189AsnfsTer14
ENST00000361166.9:c.118dup ENSP00000354529.5:p.Thr40AsnfsTer14
ENST00000672461.1:c.565dup ENSP00000500919.1:p.Thr189AsnfsTer14
ENST00000672805.1:c.*447dup ENSP00000500295.1:n.*447dup
ENST00000672896.1:c.565dup ENSP00000500117.1:p.Thr189AsnfsTer14
ENST00000673312.1:c.584dup ENSP00000500186.1:n.584dup
ENST00000334961.11:c.316dup ENSP00000335652.7:p.Thr106AsnfsTer14
ENST00000338641.8:c.565dup ENSP00000344666.4:p.Thr189AsnfsTer14
ENST00000353887.8:c.316dup ENSP00000340626.4:p.Thr106AsnfsTer14
ENST00000361166.8:c.565dup ENSP00000354529.4:p.Thr189AsnfsTer14
ENST00000361452.8:c.442dup ENSP00000354897.4:p.Thr148AsnfsTer14
ENST00000361676.8:c.439dup ENSP00000355183.4:p.Thr147AsnfsTer14
ENST00000397789.3:c.565dup ENSP00000380891.3:p.Thr189AsnfsTer14
ENST00000403435.5:c.565dup ENSP00000384029.1:p.Thr189AsnfsTer14
ENST00000403999.7:c.565dup ENSP00000384797.3:p.Thr189AsnfsTer14
ENST00000413209.6:c.447+13357dup ENSP00000409921.2:n.447+13357dup
ENST00000432151.5:c.199-5563dup ENSP00000395885.1:n.199-5563dup
NM_000268.3:c.565dup , LRG_511t1:c.565dup NP_000259.1:p.Thr189AsnfsTer14
NM_016418.5:c.565dup , LRG_511t2:c.565dup NP_057502.2:p.Thr189AsnfsTer14
NM_181825.2:c.565dup NP_861546.1:p.Thr189AsnfsTer14
NM_181828.2:c.439dup NP_861966.1:p.Thr147AsnfsTer14
NM_181829.2:c.442dup NP_861967.1:p.Thr148AsnfsTer14
NM_181830.2:c.316dup NP_861968.1:p.Thr106AsnfsTer14
NM_181831.2:c.316dup NP_861969.1:p.Thr106AsnfsTer14
NM_181832.2:c.565dup NP_861970.1:p.Thr189AsnfsTer14
NM_181833.2:c.447+13357dup NP_861971.1:n.447+13357dup
NR_156186.1:n.1124dup
XM_017028809.2:c.451dup XP_016884298.1:p.Thr151AsnfsTer14
XM_017028810.1:c.451dup XP_016884299.1:p.Thr151AsnfsTer14
NM_000268.4:c.565dup MANE Select NP_000259.1:p.Thr189AsnfsTer14
NM_181825.3:c.565dup NP_861546.1:p.Thr189AsnfsTer14
NM_181828.3:c.439dup NP_861966.1:p.Thr147AsnfsTer14
NM_181829.3:c.442dup NP_861967.1:p.Thr148AsnfsTer14
NM_181830.3:c.316dup NP_861968.1:p.Thr106AsnfsTer14
NM_181831.3:c.316dup NP_861969.1:p.Thr106AsnfsTer14
NM_181832.3:c.565dup NP_861970.1:p.Thr189AsnfsTer14
NR_156186.2:n.1047dup
NM_181833.3:c.447+13357dup NP_861971.1:n.447+13357dup