Canonical Allele Identifier: CA2400675737

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655619C= , CM000684.2:g.29655619C=	GRCh38
NC_000022.10:g.30051608C= , CM000684.1:g.30051608C=	GRCh37
NC_000022.9:g.28381608C=	NCBI36
NG_009057.1:g.57064C= , LRG_511:g.57064C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.542C=	ENSP00000354529.6:p.Pro181=
ENST00000673312.2:c.*36C=	ENSP00000500186.2:n.*36C=
ENST00000338641.10:c.542C= MANE Select	ENSP00000344666.5:p.Pro181=
ENST00000361166.9:c.95C=	ENSP00000354529.5:p.Pro32=
ENST00000672461.1:c.542C=	ENSP00000500919.1:p.Pro181=
ENST00000672805.1:c.*424C=	ENSP00000500295.1:n.*424C=
ENST00000672896.1:c.542C=	ENSP00000500117.1:p.Pro181=
ENST00000673312.1:c.561C=	ENSP00000500186.1:n.561C=
ENST00000334961.11:c.293C=	ENSP00000335652.7:p.Pro98=
ENST00000338641.8:c.542C=	ENSP00000344666.4:p.Pro181=
ENST00000353887.8:c.293C=	ENSP00000340626.4:p.Pro98=
ENST00000361166.8:c.542C=	ENSP00000354529.4:p.Pro181=
ENST00000361452.8:c.419C=	ENSP00000354897.4:p.Pro140=
ENST00000361676.8:c.416C=	ENSP00000355183.4:p.Pro139=
ENST00000397789.3:c.542C=	ENSP00000380891.3:p.Pro181=
ENST00000403435.5:c.542C=	ENSP00000384029.1:p.Pro181=
ENST00000403999.7:c.542C=	ENSP00000384797.3:p.Pro181=
ENST00000413209.6:c.447+13334C=	ENSP00000409921.2:n.447+13334C=
ENST00000432151.5:c.199-5586C=	ENSP00000395885.1:n.199-5586C=
NM_000268.3:c.542C= , LRG_511t1:c.542C=	NP_000259.1:p.Pro181=
NM_016418.5:c.542C= , LRG_511t2:c.542C=	NP_057502.2:p.Pro181=
NM_181825.2:c.542C=	NP_861546.1:p.Pro181=
NM_181828.2:c.416C=	NP_861966.1:p.Pro139=
NM_181829.2:c.419C=	NP_861967.1:p.Pro140=
NM_181830.2:c.293C=	NP_861968.1:p.Pro98=
NM_181831.2:c.293C=	NP_861969.1:p.Pro98=
NM_181832.2:c.542C=	NP_861970.1:p.Pro181=
NM_181833.2:c.447+13334C=	NP_861971.1:n.447+13334C=
NR_156186.1:n.1101C=
XM_017028809.2:c.428C=	XP_016884298.1:p.Pro143=
XM_017028810.1:c.428C=	XP_016884299.1:p.Pro143=
NM_000268.4:c.542C= MANE Select	NP_000259.1:p.Pro181=
NM_181825.3:c.542C=	NP_861546.1:p.Pro181=
NM_181828.3:c.416C=	NP_861966.1:p.Pro139=
NM_181829.3:c.419C=	NP_861967.1:p.Pro140=
NM_181830.3:c.293C=	NP_861968.1:p.Pro98=
NM_181831.3:c.293C=	NP_861969.1:p.Pro98=
NM_181832.3:c.542C=	NP_861970.1:p.Pro181=
NR_156186.2:n.1024C=
NM_181833.3:c.447+13334C=	NP_861971.1:n.447+13334C=