Canonical Allele Identifier: CA2400686812

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29681482A= , CM000684.2:g.29681482A=	GRCh38
NC_000022.10:g.30077471A= , CM000684.1:g.30077471A=	GRCh37
NC_000022.9:g.28407471A=	NCBI36
NG_009057.1:g.82927A= , LRG_511:g.82927A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1483A=	ENSP00000354529.6:p.Asn495=
ENST00000673312.2:c.*1112A=	ENSP00000500186.2:n.*1112A=
ENST00000338641.10:c.1618A= MANE Select	ENSP00000344666.5:p.Asn540=
ENST00000361166.9:c.1036A=	ENSP00000354529.5:p.Asn346=
ENST00000672461.1:c.1618A=	ENSP00000500919.1:p.Asn540=
ENST00000672805.1:c.*1500A=	ENSP00000500295.1:n.*1500A=
ENST00000672896.1:c.1618A=	ENSP00000500117.1:p.Asn540=
ENST00000673312.1:c.1637A=	ENSP00000500186.1:n.1637A=
ENST00000334961.11:c.1369A=	ENSP00000335652.7:p.Asn457=
ENST00000338641.8:c.1618A=	ENSP00000344666.4:p.Asn540=
ENST00000353887.8:c.1369A=	ENSP00000340626.4:p.Asn457=
ENST00000361166.8:c.1618A=	ENSP00000354529.4:p.Asn540=
ENST00000361452.8:c.1495A=	ENSP00000354897.4:p.Asn499=
ENST00000361676.8:c.1492A=	ENSP00000355183.4:p.Asn498=
ENST00000397789.3:c.1618A=	ENSP00000380891.3:p.Asn540=
ENST00000403435.5:c.1531A=	ENSP00000384029.1:p.Asn511=
ENST00000403999.7:c.1618A=	ENSP00000384797.3:p.Asn540=
ENST00000413209.6:c.448-13270A=	ENSP00000409921.2:n.448-13270A=
ENST00000432151.5:c.*93+3159A=	ENSP00000395885.1:n.*93+3159A=
NM_000268.3:c.1618A= , LRG_511t1:c.1618A=	NP_000259.1:p.Asn540=
NM_016418.5:c.1618A= , LRG_511t2:c.1618A=	NP_057502.2:p.Asn540=
NM_181825.2:c.1618A=	NP_861546.1:p.Asn540=
NM_181828.2:c.1492A=	NP_861966.1:p.Asn498=
NM_181829.2:c.1495A=	NP_861967.1:p.Asn499=
NM_181830.2:c.1369A=	NP_861968.1:p.Asn457=
NM_181831.2:c.1369A=	NP_861969.1:p.Asn457=
NM_181832.2:c.1618A=	NP_861970.1:p.Asn540=
NM_181833.2:c.448-13270A=	NP_861971.1:n.448-13270A=
NR_156186.1:n.2177A=
XM_017028809.2:c.1504A=	XP_016884298.1:p.Asn502=
XM_017028810.1:c.1504A=	XP_016884299.1:p.Asn502=
NM_000268.4:c.1618A= MANE Select	NP_000259.1:p.Asn540=
NM_181825.3:c.1618A=	NP_861546.1:p.Asn540=
NM_181828.3:c.1492A=	NP_861966.1:p.Asn498=
NM_181829.3:c.1495A=	NP_861967.1:p.Asn499=
NM_181830.3:c.1369A=	NP_861968.1:p.Asn457=
NM_181831.3:c.1369A=	NP_861969.1:p.Asn457=
NM_181832.3:c.1618A=	NP_861970.1:p.Asn540=
NR_156186.2:n.2100A=
NM_181833.3:c.448-13270A=	NP_861971.1:n.448-13270A=