Canonical Allele Identifier: CA2499306804

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678227_29678236del , CM000684.2:g.29678227_29678236del	GRCh38
NC_000022.10:g.30074216_30074225del , CM000684.1:g.30074216_30074225del	GRCh37
NC_000022.9:g.28404216_28404225del	NCBI36
NG_009057.1:g.79672_79681del , LRG_511:g.79672_79681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1343_1352del	ENSP00000354529.6:p.Pro448GlnfsTer19
ENST00000673312.2:c.*972_*981del	ENSP00000500186.2:n.*972_*981del
ENST00000338641.10:c.1478_1487del MANE Select	ENSP00000344666.5:p.Pro493GlnfsTer19
ENST00000361166.9:c.896_905del	ENSP00000354529.5:p.Pro299GlnfsTer19
ENST00000672461.1:c.1478_1487del	ENSP00000500919.1:p.Pro493GlnfsTer19
ENST00000672805.1:c.*1360_*1369del	ENSP00000500295.1:n.*1360_*1369del
ENST00000672896.1:c.1478_1487del	ENSP00000500117.1:p.Pro493GlnfsTer19
ENST00000673312.1:c.1497_1506del	ENSP00000500186.1:n.1497_1506del
ENST00000334961.11:c.1229_1238del	ENSP00000335652.7:p.Pro410GlnfsTer19
ENST00000338641.8:c.1478_1487del	ENSP00000344666.4:p.Pro493GlnfsTer19
ENST00000353887.8:c.1229_1238del	ENSP00000340626.4:p.Pro410GlnfsTer19
ENST00000361166.8:c.1478_1487del	ENSP00000354529.4:p.Pro493GlnfsTer19
ENST00000361452.8:c.1355_1364del	ENSP00000354897.4:p.Pro452GlnfsTer19
ENST00000361676.8:c.1352_1361del	ENSP00000355183.4:p.Pro451GlnfsTer19
ENST00000397789.3:c.1478_1487del	ENSP00000380891.3:p.Pro493GlnfsTer19
ENST00000403435.5:c.1391_1400del	ENSP00000384029.1:p.Pro464GlnfsTer19
ENST00000403999.7:c.1478_1487del	ENSP00000384797.3:p.Pro493GlnfsTer19
ENST00000413209.6:c.448-16525_448-16516del	ENSP00000409921.2:n.448-16525_448-16516del
ENST00000432151.5:c.660_*6del	ENSP00000395885.1:n.[c.660_*6del;Ter221SerextTer?]
NM_000268.3:c.1478_1487del , LRG_511t1:c.1478_1487del	NP_000259.1:p.Pro493GlnfsTer19
NM_016418.5:c.1478_1487del , LRG_511t2:c.1478_1487del	NP_057502.2:p.Pro493GlnfsTer19
NM_181825.2:c.1478_1487del	NP_861546.1:p.Pro493GlnfsTer19
NM_181828.2:c.1352_1361del	NP_861966.1:p.Pro451GlnfsTer19
NM_181829.2:c.1355_1364del	NP_861967.1:p.Pro452GlnfsTer19
NM_181830.2:c.1229_1238del	NP_861968.1:p.Pro410GlnfsTer19
NM_181831.2:c.1229_1238del	NP_861969.1:p.Pro410GlnfsTer19
NM_181832.2:c.1478_1487del	NP_861970.1:p.Pro493GlnfsTer19
NM_181833.2:c.448-16525_448-16516del	NP_861971.1:n.448-16525_448-16516del
NR_156186.1:n.2037_2046del
XM_017028809.2:c.1364_1373del	XP_016884298.1:p.Pro455GlnfsTer19
XM_017028810.1:c.1364_1373del	XP_016884299.1:p.Pro455GlnfsTer19
NM_000268.4:c.1478_1487del MANE Select	NP_000259.1:p.Pro493GlnfsTer19
NM_181825.3:c.1478_1487del	NP_861546.1:p.Pro493GlnfsTer19
NM_181828.3:c.1352_1361del	NP_861966.1:p.Pro451GlnfsTer19
NM_181829.3:c.1355_1364del	NP_861967.1:p.Pro452GlnfsTer19
NM_181830.3:c.1229_1238del	NP_861968.1:p.Pro410GlnfsTer19
NM_181831.3:c.1229_1238del	NP_861969.1:p.Pro410GlnfsTer19
NM_181832.3:c.1478_1487del	NP_861970.1:p.Pro493GlnfsTer19
NR_156186.2:n.1960_1969del
NM_181833.3:c.448-16525_448-16516del	NP_861971.1:n.448-16525_448-16516del