Canonical Allele Identifier: CA2837995205
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29678254_29678260dup , CM000684.2:g.29678254_29678260dup GRCh38
NC_000022.10:g.30074243_30074249dup , CM000684.1:g.30074243_30074249dup GRCh37
NC_000022.9:g.28404243_28404249dup NCBI36
NG_009057.1:g.79699_79705dup , LRG_511:g.79699_79705dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1370_1376dup ENSP00000354529.6:p.Ser459ArgfsTer2
ENST00000673312.2:c.*999_*1005dup ENSP00000500186.2:n.*999_*1005dup
ENST00000338641.10:c.1505_1511dup MANE Select ENSP00000344666.5:p.Ser504ArgfsTer2
ENST00000361166.9:c.923_929dup ENSP00000354529.5:p.Ser310ArgfsTer2
ENST00000672461.1:c.1505_1511dup ENSP00000500919.1:p.Ser504ArgfsTer2
ENST00000672805.1:c.*1387_*1393dup ENSP00000500295.1:n.*1387_*1393dup
ENST00000672896.1:c.1505_1511dup ENSP00000500117.1:p.Ser504ArgfsTer2
ENST00000673312.1:c.1524_1530dup ENSP00000500186.1:n.1524_1530dup
ENST00000334961.11:c.1256_1262dup ENSP00000335652.7:p.Ser421ArgfsTer2
ENST00000338641.8:c.1505_1511dup ENSP00000344666.4:p.Ser504ArgfsTer2
ENST00000353887.8:c.1256_1262dup ENSP00000340626.4:p.Ser421ArgfsTer2
ENST00000361166.8:c.1505_1511dup ENSP00000354529.4:p.Ser504ArgfsTer2
ENST00000361452.8:c.1382_1388dup ENSP00000354897.4:p.Ser463ArgfsTer2
ENST00000361676.8:c.1379_1385dup ENSP00000355183.4:p.Ser462ArgfsTer2
ENST00000397789.3:c.1505_1511dup ENSP00000380891.3:p.Ser504ArgfsTer2
ENST00000403435.5:c.1418_1424dup ENSP00000384029.1:p.Ser475ArgfsTer2
ENST00000403999.7:c.1505_1511dup ENSP00000384797.3:p.Ser504ArgfsTer2
ENST00000413209.6:c.448-16498_448-16492dup ENSP00000409921.2:n.448-16498_448-16492dup
ENST00000432151.5:c.*24_*30dup ENSP00000395885.1:n.*24_*30dup
NM_000268.3:c.1505_1511dup , LRG_511t1:c.1505_1511dup NP_000259.1:p.Ser504ArgfsTer2
NM_016418.5:c.1505_1511dup , LRG_511t2:c.1505_1511dup NP_057502.2:p.Ser504ArgfsTer2
NM_181825.2:c.1505_1511dup NP_861546.1:p.Ser504ArgfsTer2
NM_181828.2:c.1379_1385dup NP_861966.1:p.Ser462ArgfsTer2
NM_181829.2:c.1382_1388dup NP_861967.1:p.Ser463ArgfsTer2
NM_181830.2:c.1256_1262dup NP_861968.1:p.Ser421ArgfsTer2
NM_181831.2:c.1256_1262dup NP_861969.1:p.Ser421ArgfsTer2
NM_181832.2:c.1505_1511dup NP_861970.1:p.Ser504ArgfsTer2
NM_181833.2:c.448-16498_448-16492dup NP_861971.1:n.448-16498_448-16492dup
NR_156186.1:n.2064_2070dup
XM_017028809.2:c.1391_1397dup XP_016884298.1:p.Ser466ArgfsTer2
XM_017028810.1:c.1391_1397dup XP_016884299.1:p.Ser466ArgfsTer2
NM_000268.4:c.1505_1511dup MANE Select NP_000259.1:p.Ser504ArgfsTer2
NM_181825.3:c.1505_1511dup NP_861546.1:p.Ser504ArgfsTer2
NM_181828.3:c.1379_1385dup NP_861966.1:p.Ser462ArgfsTer2
NM_181829.3:c.1382_1388dup NP_861967.1:p.Ser463ArgfsTer2
NM_181830.3:c.1256_1262dup NP_861968.1:p.Ser421ArgfsTer2
NM_181831.3:c.1256_1262dup NP_861969.1:p.Ser421ArgfsTer2
NM_181832.3:c.1505_1511dup NP_861970.1:p.Ser504ArgfsTer2
NR_156186.2:n.1987_1993dup
NM_181833.3:c.448-16498_448-16492dup NP_861971.1:n.448-16498_448-16492dup