Canonical Allele Identifier: CA2695230515
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29678312dup , CM000684.2:g.29678312dup GRCh38
NC_000022.10:g.30074301dup , CM000684.1:g.30074301dup GRCh37
NC_000022.9:g.28404301dup NCBI36
NG_009057.1:g.79757dup , LRG_511:g.79757dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1428dup ENSP00000354529.6:p.Glu477ArgfsTer20
ENST00000673312.2:c.*1057dup ENSP00000500186.2:n.*1057dup
ENST00000338641.10:c.1563dup MANE Select ENSP00000344666.5:p.Glu522ArgfsTer20
ENST00000361166.9:c.981dup ENSP00000354529.5:p.Glu328ArgfsTer20
ENST00000672461.1:c.1563dup ENSP00000500919.1:p.Glu522ArgfsTer20
ENST00000672805.1:c.*1445dup ENSP00000500295.1:n.*1445dup
ENST00000672896.1:c.1563dup ENSP00000500117.1:p.Glu522ArgfsTer20
ENST00000673312.1:c.1582dup ENSP00000500186.1:n.1582dup
ENST00000334961.11:c.1314dup ENSP00000335652.7:p.Glu439ArgfsTer20
ENST00000338641.8:c.1563dup ENSP00000344666.4:p.Glu522ArgfsTer20
ENST00000353887.8:c.1314dup ENSP00000340626.4:p.Glu439ArgfsTer20
ENST00000361166.8:c.1563dup ENSP00000354529.4:p.Glu522ArgfsTer20
ENST00000361452.8:c.1440dup ENSP00000354897.4:p.Glu481ArgfsTer20
ENST00000361676.8:c.1437dup ENSP00000355183.4:p.Glu480ArgfsTer20
ENST00000397789.3:c.1563dup ENSP00000380891.3:p.Glu522ArgfsTer20
ENST00000403435.5:c.1476dup ENSP00000384029.1:p.Glu493ArgfsTer20
ENST00000403999.7:c.1563dup ENSP00000384797.3:p.Glu522ArgfsTer20
ENST00000413209.6:c.448-16440dup ENSP00000409921.2:n.448-16440dup
ENST00000432151.5:c.*82dup ENSP00000395885.1:n.*82dup
NM_000268.3:c.1563dup , LRG_511t1:c.1563dup NP_000259.1:p.Glu522ArgfsTer20
NM_016418.5:c.1563dup , LRG_511t2:c.1563dup NP_057502.2:p.Glu522ArgfsTer20
NM_181825.2:c.1563dup NP_861546.1:p.Glu522ArgfsTer20
NM_181828.2:c.1437dup NP_861966.1:p.Glu480ArgfsTer20
NM_181829.2:c.1440dup NP_861967.1:p.Glu481ArgfsTer20
NM_181830.2:c.1314dup NP_861968.1:p.Glu439ArgfsTer20
NM_181831.2:c.1314dup NP_861969.1:p.Glu439ArgfsTer20
NM_181832.2:c.1563dup NP_861970.1:p.Glu522ArgfsTer20
NM_181833.2:c.448-16440dup NP_861971.1:n.448-16440dup
NR_156186.1:n.2122dup
XM_017028809.2:c.1449dup XP_016884298.1:p.Glu484ArgfsTer20
XM_017028810.1:c.1449dup XP_016884299.1:p.Glu484ArgfsTer20
NM_000268.4:c.1563dup MANE Select NP_000259.1:p.Glu522ArgfsTer20
NM_181825.3:c.1563dup NP_861546.1:p.Glu522ArgfsTer20
NM_181828.3:c.1437dup NP_861966.1:p.Glu480ArgfsTer20
NM_181829.3:c.1440dup NP_861967.1:p.Glu481ArgfsTer20
NM_181830.3:c.1314dup NP_861968.1:p.Glu439ArgfsTer20
NM_181831.3:c.1314dup NP_861969.1:p.Glu439ArgfsTer20
NM_181832.3:c.1563dup NP_861970.1:p.Glu522ArgfsTer20
NR_156186.2:n.2045dup
NM_181833.3:c.448-16440dup NP_861971.1:n.448-16440dup