Canonical Allele Identifier: CA2695230529
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29681497_29681498del , CM000684.2:g.29681497_29681498del GRCh38
NC_000022.10:g.30077486_30077487del , CM000684.1:g.30077486_30077487del GRCh37
NC_000022.9:g.28407486_28407487del NCBI36
NG_009057.1:g.82942_82943del , LRG_511:g.82942_82943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1498_1499del ENSP00000354529.6:p.Glu500AsnfsTer19
ENST00000673312.2:c.*1127_*1128del ENSP00000500186.2:n.*1127_*1128del
ENST00000338641.10:c.1633_1634del MANE Select ENSP00000344666.5:p.Glu545AsnfsTer19
ENST00000361166.9:c.1051_1052del ENSP00000354529.5:p.Glu351AsnfsTer19
ENST00000672461.1:c.1633_1634del ENSP00000500919.1:p.Glu545AsnfsTer19
ENST00000672805.1:c.*1515_*1516del ENSP00000500295.1:n.*1515_*1516del
ENST00000672896.1:c.1633_1634del ENSP00000500117.1:p.Glu545AsnfsTer19
ENST00000673312.1:c.1652_1653del ENSP00000500186.1:n.1652_1653del
ENST00000334961.11:c.1384_1385del ENSP00000335652.7:p.Glu462AsnfsTer19
ENST00000338641.8:c.1633_1634del ENSP00000344666.4:p.Glu545AsnfsTer19
ENST00000353887.8:c.1384_1385del ENSP00000340626.4:p.Glu462AsnfsTer19
ENST00000361166.8:c.1633_1634del ENSP00000354529.4:p.Glu545AsnfsTer19
ENST00000361452.8:c.1510_1511del ENSP00000354897.4:p.Glu504AsnfsTer19
ENST00000361676.8:c.1507_1508del ENSP00000355183.4:p.Glu503AsnfsTer19
ENST00000397789.3:c.1633_1634del ENSP00000380891.3:p.Glu545AsnfsTer19
ENST00000403435.5:c.1546_1547del ENSP00000384029.1:p.Glu516AsnfsTer19
ENST00000403999.7:c.1633_1634del ENSP00000384797.3:p.Glu545AsnfsTer19
ENST00000413209.6:c.448-13255_448-13254del ENSP00000409921.2:n.448-13255_448-13254del
ENST00000432151.5:c.*93+3174_*93+3175del ENSP00000395885.1:n.*93+3174_*93+3175del
NM_000268.3:c.1633_1634del , LRG_511t1:c.1633_1634del NP_000259.1:p.Glu545AsnfsTer19
NM_016418.5:c.1633_1634del , LRG_511t2:c.1633_1634del NP_057502.2:p.Glu545AsnfsTer19
NM_181825.2:c.1633_1634del NP_861546.1:p.Glu545AsnfsTer19
NM_181828.2:c.1507_1508del NP_861966.1:p.Glu503AsnfsTer19
NM_181829.2:c.1510_1511del NP_861967.1:p.Glu504AsnfsTer19
NM_181830.2:c.1384_1385del NP_861968.1:p.Glu462AsnfsTer19
NM_181831.2:c.1384_1385del NP_861969.1:p.Glu462AsnfsTer19
NM_181832.2:c.1633_1634del NP_861970.1:p.Glu545AsnfsTer19
NM_181833.2:c.448-13255_448-13254del NP_861971.1:n.448-13255_448-13254del
NR_156186.1:n.2192_2193del
XM_017028809.2:c.1519_1520del XP_016884298.1:p.Glu507AsnfsTer19
XM_017028810.1:c.1519_1520del XP_016884299.1:p.Glu507AsnfsTer19
NM_000268.4:c.1633_1634del MANE Select NP_000259.1:p.Glu545AsnfsTer19
NM_181825.3:c.1633_1634del NP_861546.1:p.Glu545AsnfsTer19
NM_181828.3:c.1507_1508del NP_861966.1:p.Glu503AsnfsTer19
NM_181829.3:c.1510_1511del NP_861967.1:p.Glu504AsnfsTer19
NM_181830.3:c.1384_1385del NP_861968.1:p.Glu462AsnfsTer19
NM_181831.3:c.1384_1385del NP_861969.1:p.Glu462AsnfsTer19
NM_181832.3:c.1633_1634del NP_861970.1:p.Glu545AsnfsTer19
NR_156186.2:n.2115_2116del
NM_181833.3:c.448-13255_448-13254del NP_861971.1:n.448-13255_448-13254del