Canonical Allele Identifier: CA2400681111

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29668417C= , CM000684.2:g.29668417C=	GRCh38
NC_000022.10:g.30064406C= , CM000684.1:g.30064406C=	GRCh37
NC_000022.9:g.28394406C=	NCBI36
NG_009057.1:g.69862C= , LRG_511:g.69862C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000268.4:c.970C= MANE Select	NP_000259.1:p.Gln324=
ENST00000338641.10:c.970C= MANE Select	ENSP00000344666.5:p.Gln324=
NM_000268.3:c.970C= , LRG_511t1:c.970C=	NP_000259.1:p.Gln324=
NM_016418.5:c.970C= , LRG_511t2:c.970C=	NP_057502.2:p.Gln324=
NM_181825.2:c.970C=	NP_861546.1:p.Gln324=
NM_181825.3:c.970C=	NP_861546.1:p.Gln324=
NM_181828.2:c.844C=	NP_861966.1:p.Gln282=
NM_181828.3:c.844C=	NP_861966.1:p.Gln282=
NM_181829.2:c.847C=	NP_861967.1:p.Gln283=
NM_181829.3:c.847C=	NP_861967.1:p.Gln283=
NM_181830.2:c.721C=	NP_861968.1:p.Gln241=
NM_181830.3:c.721C=	NP_861968.1:p.Gln241=
NM_181831.2:c.721C=	NP_861969.1:p.Gln241=
NM_181831.3:c.721C=	NP_861969.1:p.Gln241=
NM_181832.2:c.970C=	NP_861970.1:p.Gln324=
NM_181832.3:c.970C=	NP_861970.1:p.Gln324=
NM_181833.2:c.447+26132C=	NP_861971.1:n.447+26132C=
NM_181833.3:c.447+26132C=	NP_861971.1:n.447+26132C=
NR_156186.1:n.1529C=
NR_156186.2:n.1452C=
ENST00000334961.11:c.721C=	ENSP00000335652.7:p.Gln241=
ENST00000338641.8:c.970C=	ENSP00000344666.4:p.Gln324=
ENST00000353887.8:c.721C=	ENSP00000340626.4:p.Gln241=
ENST00000361166.10:c.835C=	ENSP00000354529.6:p.Gln279=
ENST00000361166.8:c.970C=	ENSP00000354529.4:p.Gln324=
ENST00000361166.9:c.388C=	ENSP00000354529.5:p.Gln130=
ENST00000361452.8:c.847C=	ENSP00000354897.4:p.Gln283=
ENST00000361676.8:c.844C=	ENSP00000355183.4:p.Gln282=
ENST00000397789.3:c.970C=	ENSP00000380891.3:p.Gln324=
ENST00000403435.5:c.970C=	ENSP00000384029.1:p.Gln324=
ENST00000403999.7:c.970C=	ENSP00000384797.3:p.Gln324=
ENST00000413209.6:c.447+26132C=	ENSP00000409921.2:n.447+26132C=
ENST00000432151.5:c.493C=	ENSP00000395885.1:p.Gln165=
ENST00000672461.1:c.970C=	ENSP00000500919.1:p.Gln324=
ENST00000672805.1:c.*852C=	ENSP00000500295.1:n.*852C=
ENST00000672896.1:c.970C=	ENSP00000500117.1:p.Gln324=
ENST00000673312.1:c.989C=	ENSP00000500186.1:n.989C=
ENST00000673312.2:c.*464C=	ENSP00000500186.2:n.*464C=
XM_017028809.2:c.856C=	XP_016884298.1:p.Gln286=
XM_017028810.1:c.856C=	XP_016884299.1:p.Gln286=