Canonical Allele Identifier: CA2695230665
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29661215del , CM000684.2:g.29661215del GRCh38
NC_000022.10:g.30057204del , CM000684.1:g.30057204del GRCh37
NC_000022.9:g.28387204del NCBI36
NG_009057.1:g.62660del , LRG_511:g.62660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.675+2951del ENSP00000354529.6:n.675+2951del
ENST00000673312.2:c.*180del ENSP00000500186.2:n.*180del
ENST00000338641.10:c.686del MANE Select ENSP00000344666.5:p.Gly229AlafsTer22
ENST00000361166.9:c.228+2951del ENSP00000354529.5:n.228+2951del
ENST00000672461.1:c.686del ENSP00000500919.1:p.Gly229AlafsTer22
ENST00000672805.1:c.*568del ENSP00000500295.1:n.*568del
ENST00000672896.1:c.686del ENSP00000500117.1:p.Gly229AlafsTer22
ENST00000673312.1:c.705del ENSP00000500186.1:n.705del
ENST00000334961.11:c.437del ENSP00000335652.7:p.Gly146AlafsTer22
ENST00000338641.8:c.686del ENSP00000344666.4:p.Gly229AlafsTer22
ENST00000353887.8:c.437del ENSP00000340626.4:p.Gly146AlafsTer22
ENST00000361166.8:c.686del ENSP00000354529.4:p.Gly229AlafsTer22
ENST00000361452.8:c.563del ENSP00000354897.4:p.Gly188AlafsTer22
ENST00000361676.8:c.560del ENSP00000355183.4:p.Gly187AlafsTer22
ENST00000397789.3:c.686del ENSP00000380891.3:p.Gly229AlafsTer22
ENST00000403435.5:c.686del ENSP00000384029.1:p.Gly229AlafsTer22
ENST00000403999.7:c.686del ENSP00000384797.3:p.Gly229AlafsTer22
ENST00000413209.6:c.447+18930del ENSP00000409921.2:n.447+18930del
ENST00000432151.5:c.209del ENSP00000395885.1:p.Gly70AlafsTer22
NM_000268.3:c.686del , LRG_511t1:c.686del NP_000259.1:p.Gly229AlafsTer22
NM_016418.5:c.686del , LRG_511t2:c.686del NP_057502.2:p.Gly229AlafsTer22
NM_181825.2:c.686del NP_861546.1:p.Gly229AlafsTer22
NM_181828.2:c.560del NP_861966.1:p.Gly187AlafsTer22
NM_181829.2:c.563del NP_861967.1:p.Gly188AlafsTer22
NM_181830.2:c.437del NP_861968.1:p.Gly146AlafsTer22
NM_181831.2:c.437del NP_861969.1:p.Gly146AlafsTer22
NM_181832.2:c.686del NP_861970.1:p.Gly229AlafsTer22
NM_181833.2:c.447+18930del NP_861971.1:n.447+18930del
NR_156186.1:n.1245del
XM_017028809.2:c.572del XP_016884298.1:p.Gly191AlafsTer22
XM_017028810.1:c.572del XP_016884299.1:p.Gly191AlafsTer22
NM_000268.4:c.686del MANE Select NP_000259.1:p.Gly229AlafsTer22
NM_181825.3:c.686del NP_861546.1:p.Gly229AlafsTer22
NM_181828.3:c.560del NP_861966.1:p.Gly187AlafsTer22
NM_181829.3:c.563del NP_861967.1:p.Gly188AlafsTer22
NM_181830.3:c.437del NP_861968.1:p.Gly146AlafsTer22
NM_181831.3:c.437del NP_861969.1:p.Gly146AlafsTer22
NM_181832.3:c.686del NP_861970.1:p.Gly229AlafsTer22
NR_156186.2:n.1168del
NM_181833.3:c.447+18930del NP_861971.1:n.447+18930del