Canonical Allele Identifier: CA2538449107
Gene: NF2 HGNC NCBI

Linked Data

dbSNP Id: rs2146873381

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29639219_29639221del , CM000684.2:g.29639219_29639221del GRCh38
NC_000022.10:g.30035208_30035210del , CM000684.1:g.30035208_30035210del GRCh37
NC_000022.9:g.28365208_28365210del NCBI36
NG_009057.1:g.40664_40666del , LRG_511:g.40664_40666del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.363+7_363+9del ENSP00000354529.6:n.363+7_363+9del
ENST00000673312.2:c.363+7_363+9del ENSP00000500186.2:n.363+7_363+9del
ENST00000338641.10:c.363+7_363+9del MANE Select ENSP00000344666.5:n.363+7_363+9del
ENST00000672461.1:c.363+7_363+9del ENSP00000500919.1:n.363+7_363+9del
ENST00000672805.1:c.*245+7_*245+9del ENSP00000500295.1:n.*245+7_*245+9del
ENST00000672896.1:c.363+7_363+9del ENSP00000500117.1:n.363+7_363+9del
ENST00000673312.1:c.276+7_276+9del ENSP00000500186.1:n.276+7_276+9del
ENST00000334961.11:c.115-2983_115-2981del ENSP00000335652.7:n.115-2983_115-2981del
ENST00000338641.8:c.363+7_363+9del ENSP00000344666.4:n.363+7_363+9del
ENST00000353887.8:c.115-2983_115-2981del ENSP00000340626.4:n.115-2983_115-2981del
ENST00000361166.8:c.363+7_363+9del ENSP00000354529.4:n.363+7_363+9del
ENST00000361452.8:c.240+2343_240+2345del ENSP00000354897.4:n.240+2343_240+2345del
ENST00000361676.8:c.237+7_237+9del ENSP00000355183.4:n.237+7_237+9del
ENST00000397789.3:c.363+7_363+9del ENSP00000380891.3:n.363+7_363+9del
ENST00000403435.5:c.363+7_363+9del ENSP00000384029.1:n.363+7_363+9del
ENST00000403999.7:c.363+7_363+9del ENSP00000384797.3:n.363+7_363+9del
ENST00000413209.6:c.363+7_363+9del ENSP00000409921.2:n.363+7_363+9del
ENST00000432151.5:c.115-2983_115-2981del ENSP00000395885.1:n.115-2983_115-2981del
NM_000268.3:c.363+7_363+9del , LRG_511t1:c.363+7_363+9del NP_000259.1:n.363+7_363+9del
NM_016418.5:c.363+7_363+9del , LRG_511t2:c.363+7_363+9del NP_057502.2:n.363+7_363+9del
NM_181825.2:c.363+7_363+9del NP_861546.1:n.363+7_363+9del
NM_181828.2:c.237+7_237+9del NP_861966.1:n.237+7_237+9del
NM_181829.2:c.240+2343_240+2345del NP_861967.1:n.240+2343_240+2345del
NM_181830.2:c.115-2983_115-2981del NP_861968.1:n.115-2983_115-2981del
NM_181831.2:c.115-2983_115-2981del NP_861969.1:n.115-2983_115-2981del
NM_181832.2:c.363+7_363+9del NP_861970.1:n.363+7_363+9del
NM_181833.2:c.363+7_363+9del NP_861971.1:n.363+7_363+9del
NR_156186.1:n.922+7_922+9del
XM_017028809.2:c.249+7_249+9del XP_016884298.1:n.249+7_249+9del
XM_017028810.1:c.249+7_249+9del XP_016884299.1:n.249+7_249+9del
NM_000268.4:c.363+7_363+9del MANE Select NP_000259.1:n.363+7_363+9del
NM_181825.3:c.363+7_363+9del NP_861546.1:n.363+7_363+9del
NM_181828.3:c.237+7_237+9del NP_861966.1:n.237+7_237+9del
NM_181829.3:c.240+2343_240+2345del NP_861967.1:n.240+2343_240+2345del
NM_181830.3:c.115-2983_115-2981del NP_861968.1:n.115-2983_115-2981del
NM_181831.3:c.115-2983_115-2981del NP_861969.1:n.115-2983_115-2981del
NM_181832.3:c.363+7_363+9del NP_861970.1:n.363+7_363+9del
NR_156186.2:n.845+7_845+9del
NM_181833.3:c.363+7_363+9del NP_861971.1:n.363+7_363+9del