Canonical Allele Identifier: CA2400683247

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673272C= , CM000684.2:g.29673272C=	GRCh38
NC_000022.10:g.30069261C= , CM000684.1:g.30069261C=	GRCh37
NC_000022.9:g.28399261C=	NCBI36
NG_009057.1:g.74717C= , LRG_511:g.74717C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.991C=	ENSP00000354529.6:p.Arg331=
ENST00000673312.2:c.*620C=	ENSP00000500186.2:n.*620C=
ENST00000338641.10:c.1126C= MANE Select	ENSP00000344666.5:p.Arg376=
ENST00000361166.9:c.544C=	ENSP00000354529.5:p.Arg182=
ENST00000672461.1:c.1126C=	ENSP00000500919.1:p.Arg376=
ENST00000672805.1:c.*1008C=	ENSP00000500295.1:n.*1008C=
ENST00000672896.1:c.1126C=	ENSP00000500117.1:p.Arg376=
ENST00000673312.1:c.1145C=	ENSP00000500186.1:n.1145C=
ENST00000334961.11:c.877C=	ENSP00000335652.7:p.Arg293=
ENST00000338641.8:c.1126C=	ENSP00000344666.4:p.Arg376=
ENST00000353887.8:c.877C=	ENSP00000340626.4:p.Arg293=
ENST00000361166.8:c.1126C=	ENSP00000354529.4:p.Arg376=
ENST00000361452.8:c.1003C=	ENSP00000354897.4:p.Arg335=
ENST00000361676.8:c.1000C=	ENSP00000355183.4:p.Arg334=
ENST00000397789.3:c.1126C=	ENSP00000380891.3:p.Arg376=
ENST00000403435.5:c.1039C=	ENSP00000384029.1:p.Arg347=
ENST00000403999.7:c.1126C=	ENSP00000384797.3:p.Arg376=
ENST00000413209.6:c.448-21480C=	ENSP00000409921.2:n.448-21480C=
ENST00000432151.5:c.523-1564C=	ENSP00000395885.1:n.523-1564C=
NM_000268.3:c.1126C= , LRG_511t1:c.1126C=	NP_000259.1:p.Arg376=
NM_016418.5:c.1126C= , LRG_511t2:c.1126C=	NP_057502.2:p.Arg376=
NM_181825.2:c.1126C=	NP_861546.1:p.Arg376=
NM_181828.2:c.1000C=	NP_861966.1:p.Arg334=
NM_181829.2:c.1003C=	NP_861967.1:p.Arg335=
NM_181830.2:c.877C=	NP_861968.1:p.Arg293=
NM_181831.2:c.877C=	NP_861969.1:p.Arg293=
NM_181832.2:c.1126C=	NP_861970.1:p.Arg376=
NM_181833.2:c.448-21480C=	NP_861971.1:n.448-21480C=
NR_156186.1:n.1685C=
XM_017028809.2:c.1012C=	XP_016884298.1:p.Arg338=
XM_017028810.1:c.1012C=	XP_016884299.1:p.Arg338=
NM_000268.4:c.1126C= MANE Select	NP_000259.1:p.Arg376=
NM_181825.3:c.1126C=	NP_861546.1:p.Arg376=
NM_181828.3:c.1000C=	NP_861966.1:p.Arg334=
NM_181829.3:c.1003C=	NP_861967.1:p.Arg335=
NM_181830.3:c.877C=	NP_861968.1:p.Arg293=
NM_181831.3:c.877C=	NP_861969.1:p.Arg293=
NM_181832.3:c.1126C=	NP_861970.1:p.Arg376=
NR_156186.2:n.1608C=
NM_181833.3:c.448-21480C=	NP_861971.1:n.448-21480C=