Canonical Allele Identifier: CA2400675739

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655621G= , CM000684.2:g.29655621G=	GRCh38
NC_000022.10:g.30051610G= , CM000684.1:g.30051610G=	GRCh37
NC_000022.9:g.28381610G=	NCBI36
NG_009057.1:g.57066G= , LRG_511:g.57066G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000268.4:c.544G= MANE Select	NP_000259.1:p.Glu182=
ENST00000338641.10:c.544G= MANE Select	ENSP00000344666.5:p.Glu182=
NM_000268.3:c.544G= , LRG_511t1:c.544G=	NP_000259.1:p.Glu182=
NM_016418.5:c.544G= , LRG_511t2:c.544G=	NP_057502.2:p.Glu182=
NM_181825.2:c.544G=	NP_861546.1:p.Glu182=
NM_181825.3:c.544G=	NP_861546.1:p.Glu182=
NM_181828.2:c.418G=	NP_861966.1:p.Glu140=
NM_181828.3:c.418G=	NP_861966.1:p.Glu140=
NM_181829.2:c.421G=	NP_861967.1:p.Glu141=
NM_181829.3:c.421G=	NP_861967.1:p.Glu141=
NM_181830.2:c.295G=	NP_861968.1:p.Glu99=
NM_181830.3:c.295G=	NP_861968.1:p.Glu99=
NM_181831.2:c.295G=	NP_861969.1:p.Glu99=
NM_181831.3:c.295G=	NP_861969.1:p.Glu99=
NM_181832.2:c.544G=	NP_861970.1:p.Glu182=
NM_181832.3:c.544G=	NP_861970.1:p.Glu182=
NM_181833.2:c.447+13336G=	NP_861971.1:n.447+13336G=
NM_181833.3:c.447+13336G=	NP_861971.1:n.447+13336G=
NR_156186.1:n.1103G=
NR_156186.2:n.1026G=
ENST00000334961.11:c.295G=	ENSP00000335652.7:p.Glu99=
ENST00000338641.8:c.544G=	ENSP00000344666.4:p.Glu182=
ENST00000353887.8:c.295G=	ENSP00000340626.4:p.Glu99=
ENST00000361166.10:c.544G=	ENSP00000354529.6:p.Glu182=
ENST00000361166.8:c.544G=	ENSP00000354529.4:p.Glu182=
ENST00000361166.9:c.97G=	ENSP00000354529.5:p.Glu33=
ENST00000361452.8:c.421G=	ENSP00000354897.4:p.Glu141=
ENST00000361676.8:c.418G=	ENSP00000355183.4:p.Glu140=
ENST00000397789.3:c.544G=	ENSP00000380891.3:p.Glu182=
ENST00000403435.5:c.544G=	ENSP00000384029.1:p.Glu182=
ENST00000403999.7:c.544G=	ENSP00000384797.3:p.Glu182=
ENST00000413209.6:c.447+13336G=	ENSP00000409921.2:n.447+13336G=
ENST00000432151.5:c.199-5584G=	ENSP00000395885.1:n.199-5584G=
ENST00000672461.1:c.544G=	ENSP00000500919.1:p.Glu182=
ENST00000672805.1:c.*426G=	ENSP00000500295.1:n.*426G=
ENST00000672896.1:c.544G=	ENSP00000500117.1:p.Glu182=
ENST00000673312.1:c.563G=	ENSP00000500186.1:n.563G=
ENST00000673312.2:c.*38G=	ENSP00000500186.2:n.*38G=
XM_017028809.2:c.430G=	XP_016884298.1:p.Glu144=
XM_017028810.1:c.430G=	XP_016884299.1:p.Glu144=