Canonical Allele Identifier: CA2400675326

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654715T= , CM000684.2:g.29654715T=	GRCh38
NC_000022.10:g.30050704T= , CM000684.1:g.30050704T=	GRCh37
NC_000022.9:g.28380704T=	NCBI36
NG_009057.1:g.56160T= , LRG_511:g.56160T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.506T=	ENSP00000354529.6:p.Leu169=
ENST00000673312.2:c.506T=	ENSP00000500186.2:p.Leu169=
ENST00000338641.10:c.506T= MANE Select	ENSP00000344666.5:p.Leu169=
ENST00000361166.9:c.59T=	ENSP00000354529.5:p.Leu20=
ENST00000672461.1:c.506T=	ENSP00000500919.1:p.Leu169=
ENST00000672805.1:c.*388T=	ENSP00000500295.1:n.*388T=
ENST00000672896.1:c.506T=	ENSP00000500117.1:p.Leu169=
ENST00000673312.1:c.419T=	ENSP00000500186.1:p.Leu140=
ENST00000334961.11:c.257T=	ENSP00000335652.7:p.Leu86=
ENST00000338641.8:c.506T=	ENSP00000344666.4:p.Leu169=
ENST00000353887.8:c.257T=	ENSP00000340626.4:p.Leu86=
ENST00000361166.8:c.506T=	ENSP00000354529.4:p.Leu169=
ENST00000361452.8:c.383T=	ENSP00000354897.4:p.Leu128=
ENST00000361676.8:c.380T=	ENSP00000355183.4:p.Leu127=
ENST00000397789.3:c.506T=	ENSP00000380891.3:p.Leu169=
ENST00000403435.5:c.506T=	ENSP00000384029.1:p.Leu169=
ENST00000403999.7:c.506T=	ENSP00000384797.3:p.Leu169=
ENST00000413209.6:c.447+12430T=	ENSP00000409921.2:n.447+12430T=
ENST00000432151.5:c.199-6490T=	ENSP00000395885.1:n.199-6490T=
NM_000268.3:c.506T= , LRG_511t1:c.506T=	NP_000259.1:p.Leu169=
NM_016418.5:c.506T= , LRG_511t2:c.506T=	NP_057502.2:p.Leu169=
NM_181825.2:c.506T=	NP_861546.1:p.Leu169=
NM_181828.2:c.380T=	NP_861966.1:p.Leu127=
NM_181829.2:c.383T=	NP_861967.1:p.Leu128=
NM_181830.2:c.257T=	NP_861968.1:p.Leu86=
NM_181831.2:c.257T=	NP_861969.1:p.Leu86=
NM_181832.2:c.506T=	NP_861970.1:p.Leu169=
NM_181833.2:c.447+12430T=	NP_861971.1:n.447+12430T=
NR_156186.1:n.1065T=
XM_017028809.2:c.392T=	XP_016884298.1:p.Leu131=
XM_017028810.1:c.392T=	XP_016884299.1:p.Leu131=
NM_000268.4:c.506T= MANE Select	NP_000259.1:p.Leu169=
NM_181825.3:c.506T=	NP_861546.1:p.Leu169=
NM_181828.3:c.380T=	NP_861966.1:p.Leu127=
NM_181829.3:c.383T=	NP_861967.1:p.Leu128=
NM_181830.3:c.257T=	NP_861968.1:p.Leu86=
NM_181831.3:c.257T=	NP_861969.1:p.Leu86=
NM_181832.3:c.506T=	NP_861970.1:p.Leu169=
NR_156186.2:n.988T=
NM_181833.3:c.447+12430T=	NP_861971.1:n.447+12430T=