Canonical Allele Identifier: CA2695230646
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29655624del , CM000684.2:g.29655624del GRCh38
NC_000022.10:g.30051613del , CM000684.1:g.30051613del GRCh37
NC_000022.9:g.28381613del NCBI36
NG_009057.1:g.57069del , LRG_511:g.57069del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.547del ENSP00000354529.6:p.Met183CysfsTer26
ENST00000673312.2:c.*41del ENSP00000500186.2:n.*41del
ENST00000338641.10:c.547del MANE Select ENSP00000344666.5:p.Met183CysfsTer26
ENST00000361166.9:c.100del ENSP00000354529.5:p.Met34CysfsTer26
ENST00000672461.1:c.547del ENSP00000500919.1:p.Met183CysfsTer26
ENST00000672805.1:c.*429del ENSP00000500295.1:n.*429del
ENST00000672896.1:c.547del ENSP00000500117.1:p.Met183CysfsTer26
ENST00000673312.1:c.566del ENSP00000500186.1:n.566del
ENST00000334961.11:c.298del ENSP00000335652.7:p.Met100CysfsTer26
ENST00000338641.8:c.547del ENSP00000344666.4:p.Met183CysfsTer26
ENST00000353887.8:c.298del ENSP00000340626.4:p.Met100CysfsTer26
ENST00000361166.8:c.547del ENSP00000354529.4:p.Met183CysfsTer26
ENST00000361452.8:c.424del ENSP00000354897.4:p.Met142CysfsTer26
ENST00000361676.8:c.421del ENSP00000355183.4:p.Met141CysfsTer26
ENST00000397789.3:c.547del ENSP00000380891.3:p.Met183CysfsTer26
ENST00000403435.5:c.547del ENSP00000384029.1:p.Met183CysfsTer26
ENST00000403999.7:c.547del ENSP00000384797.3:p.Met183CysfsTer26
ENST00000413209.6:c.447+13339del ENSP00000409921.2:n.447+13339del
ENST00000432151.5:c.199-5581del ENSP00000395885.1:n.199-5581del
NM_000268.3:c.547del , LRG_511t1:c.547del NP_000259.1:p.Met183CysfsTer26
NM_016418.5:c.547del , LRG_511t2:c.547del NP_057502.2:p.Met183CysfsTer26
NM_181825.2:c.547del NP_861546.1:p.Met183CysfsTer26
NM_181828.2:c.421del NP_861966.1:p.Met141CysfsTer26
NM_181829.2:c.424del NP_861967.1:p.Met142CysfsTer26
NM_181830.2:c.298del NP_861968.1:p.Met100CysfsTer26
NM_181831.2:c.298del NP_861969.1:p.Met100CysfsTer26
NM_181832.2:c.547del NP_861970.1:p.Met183CysfsTer26
NM_181833.2:c.447+13339del NP_861971.1:n.447+13339del
NR_156186.1:n.1106del
XM_017028809.2:c.433del XP_016884298.1:p.Met145CysfsTer26
XM_017028810.1:c.433del XP_016884299.1:p.Met145CysfsTer26
NM_000268.4:c.547del MANE Select NP_000259.1:p.Met183CysfsTer26
NM_181825.3:c.547del NP_861546.1:p.Met183CysfsTer26
NM_181828.3:c.421del NP_861966.1:p.Met141CysfsTer26
NM_181829.3:c.424del NP_861967.1:p.Met142CysfsTer26
NM_181830.3:c.298del NP_861968.1:p.Met100CysfsTer26
NM_181831.3:c.298del NP_861969.1:p.Met100CysfsTer26
NM_181832.3:c.547del NP_861970.1:p.Met183CysfsTer26
NR_156186.2:n.1029del
NM_181833.3:c.447+13339del NP_861971.1:n.447+13339del