Canonical Allele Identifier: CA2400685423

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678260G= , CM000684.2:g.29678260G=	GRCh38
NC_000022.10:g.30074249G= , CM000684.1:g.30074249G=	GRCh37
NC_000022.9:g.28404249G=	NCBI36
NG_009057.1:g.79705G= , LRG_511:g.79705G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1376G=	ENSP00000354529.6:p.Ser459=
ENST00000673312.2:c.*1005G=	ENSP00000500186.2:n.*1005G=
ENST00000338641.10:c.1511G= MANE Select	ENSP00000344666.5:p.Ser504=
ENST00000361166.9:c.929G=	ENSP00000354529.5:p.Ser310=
ENST00000672461.1:c.1511G=	ENSP00000500919.1:p.Ser504=
ENST00000672805.1:c.*1393G=	ENSP00000500295.1:n.*1393G=
ENST00000672896.1:c.1511G=	ENSP00000500117.1:p.Ser504=
ENST00000673312.1:c.1530G=	ENSP00000500186.1:n.1530G=
ENST00000334961.11:c.1262G=	ENSP00000335652.7:p.Ser421=
ENST00000338641.8:c.1511G=	ENSP00000344666.4:p.Ser504=
ENST00000353887.8:c.1262G=	ENSP00000340626.4:p.Ser421=
ENST00000361166.8:c.1511G=	ENSP00000354529.4:p.Ser504=
ENST00000361452.8:c.1388G=	ENSP00000354897.4:p.Ser463=
ENST00000361676.8:c.1385G=	ENSP00000355183.4:p.Ser462=
ENST00000397789.3:c.1511G=	ENSP00000380891.3:p.Ser504=
ENST00000403435.5:c.1424G=	ENSP00000384029.1:p.Ser475=
ENST00000403999.7:c.1511G=	ENSP00000384797.3:p.Ser504=
ENST00000413209.6:c.448-16492G=	ENSP00000409921.2:n.448-16492G=
ENST00000432151.5:c.*30G=	ENSP00000395885.1:n.*30G=
NM_000268.3:c.1511G= , LRG_511t1:c.1511G=	NP_000259.1:p.Ser504=
NM_016418.5:c.1511G= , LRG_511t2:c.1511G=	NP_057502.2:p.Ser504=
NM_181825.2:c.1511G=	NP_861546.1:p.Ser504=
NM_181828.2:c.1385G=	NP_861966.1:p.Ser462=
NM_181829.2:c.1388G=	NP_861967.1:p.Ser463=
NM_181830.2:c.1262G=	NP_861968.1:p.Ser421=
NM_181831.2:c.1262G=	NP_861969.1:p.Ser421=
NM_181832.2:c.1511G=	NP_861970.1:p.Ser504=
NM_181833.2:c.448-16492G=	NP_861971.1:n.448-16492G=
NR_156186.1:n.2070G=
XM_017028809.2:c.1397G=	XP_016884298.1:p.Ser466=
XM_017028810.1:c.1397G=	XP_016884299.1:p.Ser466=
NM_000268.4:c.1511G= MANE Select	NP_000259.1:p.Ser504=
NM_181825.3:c.1511G=	NP_861546.1:p.Ser504=
NM_181828.3:c.1385G=	NP_861966.1:p.Ser462=
NM_181829.3:c.1388G=	NP_861967.1:p.Ser463=
NM_181830.3:c.1262G=	NP_861968.1:p.Ser421=
NM_181831.3:c.1262G=	NP_861969.1:p.Ser421=
NM_181832.3:c.1511G=	NP_861970.1:p.Ser504=
NR_156186.2:n.1993G=
NM_181833.3:c.448-16492G=	NP_861971.1:n.448-16492G=