Canonical Allele Identifier: CA2400683257

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673302_29673303delinsGA , CM000684.2:g.29673302_29673303delinsGA	GRCh38
NC_000022.10:g.30069291_30069292delinsGA , CM000684.1:g.30069291_30069292delinsGA	GRCh37
NC_000022.9:g.28399291_28399292delinsGA	NCBI36
NG_009057.1:g.74747_74748delinsGA , LRG_511:g.74747_74748delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1021_1022delinsGA	ENSP00000354529.6:p.Glu341=
ENST00000673312.2:c.*650_*651delinsGA	ENSP00000500186.2:n.*650_*651delinsGA
ENST00000338641.10:c.1156_1157delinsGA MANE Select	ENSP00000344666.5:p.Glu386=
ENST00000361166.9:c.574_575delinsGA	ENSP00000354529.5:p.Glu192=
ENST00000672461.1:c.1156_1157delinsGA	ENSP00000500919.1:p.Glu386=
ENST00000672805.1:c.*1038_*1039delinsGA	ENSP00000500295.1:n.*1038_*1039delinsGA
ENST00000672896.1:c.1156_1157delinsGA	ENSP00000500117.1:p.Glu386=
ENST00000673312.1:c.1175_1176delinsGA	ENSP00000500186.1:n.1175_1176delinsGA
ENST00000334961.11:c.907_908delinsGA	ENSP00000335652.7:p.Glu303=
ENST00000338641.8:c.1156_1157delinsGA	ENSP00000344666.4:p.Glu386=
ENST00000353887.8:c.907_908delinsGA	ENSP00000340626.4:p.Glu303=
ENST00000361166.8:c.1156_1157delinsGA	ENSP00000354529.4:p.Glu386=
ENST00000361452.8:c.1033_1034delinsGA	ENSP00000354897.4:p.Glu345=
ENST00000361676.8:c.1030_1031delinsGA	ENSP00000355183.4:p.Glu344=
ENST00000397789.3:c.1156_1157delinsGA	ENSP00000380891.3:p.Glu386=
ENST00000403435.5:c.1069_1070delinsGA	ENSP00000384029.1:p.Glu357=
ENST00000403999.7:c.1156_1157delinsGA	ENSP00000384797.3:p.Glu386=
ENST00000413209.6:c.448-21450_448-21449delinsGA	ENSP00000409921.2:n.448-21450_448-21449delinsGA
ENST00000432151.5:c.523-1534_523-1533delinsGA	ENSP00000395885.1:n.523-1534_523-1533delinsGA
NM_000268.3:c.1156_1157delinsGA , LRG_511t1:c.1156_1157delinsGA	NP_000259.1:p.Glu386=
NM_016418.5:c.1156_1157delinsGA , LRG_511t2:c.1156_1157delinsGA	NP_057502.2:p.Glu386=
NM_181825.2:c.1156_1157delinsGA	NP_861546.1:p.Glu386=
NM_181828.2:c.1030_1031delinsGA	NP_861966.1:p.Glu344=
NM_181829.2:c.1033_1034delinsGA	NP_861967.1:p.Glu345=
NM_181830.2:c.907_908delinsGA	NP_861968.1:p.Glu303=
NM_181831.2:c.907_908delinsGA	NP_861969.1:p.Glu303=
NM_181832.2:c.1156_1157delinsGA	NP_861970.1:p.Glu386=
NM_181833.2:c.448-21450_448-21449delinsGA	NP_861971.1:n.448-21450_448-21449delinsGA
NR_156186.1:n.1715_1716delinsGA
XM_017028809.2:c.1042_1043delinsGA	XP_016884298.1:p.Glu348=
XM_017028810.1:c.1042_1043delinsGA	XP_016884299.1:p.Glu348=
NM_000268.4:c.1156_1157delinsGA MANE Select	NP_000259.1:p.Glu386=
NM_181825.3:c.1156_1157delinsGA	NP_861546.1:p.Glu386=
NM_181828.3:c.1030_1031delinsGA	NP_861966.1:p.Glu344=
NM_181829.3:c.1033_1034delinsGA	NP_861967.1:p.Glu345=
NM_181830.3:c.907_908delinsGA	NP_861968.1:p.Glu303=
NM_181831.3:c.907_908delinsGA	NP_861969.1:p.Glu303=
NM_181832.3:c.1156_1157delinsGA	NP_861970.1:p.Glu386=
NR_156186.2:n.1638_1639delinsGA
NM_181833.3:c.448-21450_448-21449delinsGA	NP_861971.1:n.448-21450_448-21449delinsGA