Canonical Allele Identifier: CA2499226115

Gene: NF2

Linked Data

• ClinVar Variation Id: 995902
• ClinVar RCV Id: RCV001523833
• dbSNP Id: rs2147122655

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29681477dup , CM000684.2:g.29681477dup	GRCh38
NC_000022.10:g.30077466dup , CM000684.1:g.30077466dup	GRCh37
NC_000022.9:g.28407466dup	NCBI36
NG_009057.1:g.82922dup , LRG_511:g.82922dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1478dup	ENSP00000354529.6:p.Leu494AlafsTer3
ENST00000673312.2:c.*1107dup	ENSP00000500186.2:n.*1107dup
ENST00000338641.10:c.1613dup MANE Select	ENSP00000344666.5:p.Leu539AlafsTer3
ENST00000361166.9:c.1031dup	ENSP00000354529.5:p.Leu345AlafsTer3
ENST00000672461.1:c.1613dup	ENSP00000500919.1:p.Leu539AlafsTer3
ENST00000672805.1:c.*1495dup	ENSP00000500295.1:n.*1495dup
ENST00000672896.1:c.1613dup	ENSP00000500117.1:p.Leu539AlafsTer3
ENST00000673312.1:c.1632dup	ENSP00000500186.1:n.1632dup
ENST00000334961.11:c.1364dup	ENSP00000335652.7:p.Leu456AlafsTer3
ENST00000338641.8:c.1613dup	ENSP00000344666.4:p.Leu539AlafsTer3
ENST00000353887.8:c.1364dup	ENSP00000340626.4:p.Leu456AlafsTer3
ENST00000361166.8:c.1613dup	ENSP00000354529.4:p.Leu539AlafsTer3
ENST00000361452.8:c.1490dup	ENSP00000354897.4:p.Leu498AlafsTer3
ENST00000361676.8:c.1487dup	ENSP00000355183.4:p.Leu497AlafsTer3
ENST00000397789.3:c.1613dup	ENSP00000380891.3:p.Leu539AlafsTer3
ENST00000403435.5:c.1526dup	ENSP00000384029.1:p.Leu510AlafsTer3
ENST00000403999.7:c.1613dup	ENSP00000384797.3:p.Leu539AlafsTer3
ENST00000413209.6:c.448-13275dup	ENSP00000409921.2:n.448-13275dup
ENST00000432151.5:c.*93+3154dup	ENSP00000395885.1:n.*93+3154dup
NM_000268.3:c.1613dup , LRG_511t1:c.1613dup	NP_000259.1:p.Leu539AlafsTer3
NM_016418.5:c.1613dup , LRG_511t2:c.1613dup	NP_057502.2:p.Leu539AlafsTer3
NM_181825.2:c.1613dup	NP_861546.1:p.Leu539AlafsTer3
NM_181828.2:c.1487dup	NP_861966.1:p.Leu497AlafsTer3
NM_181829.2:c.1490dup	NP_861967.1:p.Leu498AlafsTer3
NM_181830.2:c.1364dup	NP_861968.1:p.Leu456AlafsTer3
NM_181831.2:c.1364dup	NP_861969.1:p.Leu456AlafsTer3
NM_181832.2:c.1613dup	NP_861970.1:p.Leu539AlafsTer3
NM_181833.2:c.448-13275dup	NP_861971.1:n.448-13275dup
NR_156186.1:n.2172dup
XM_017028809.2:c.1499dup	XP_016884298.1:p.Leu501AlafsTer3
XM_017028810.1:c.1499dup	XP_016884299.1:p.Leu501AlafsTer3
NM_000268.4:c.1613dup MANE Select	NP_000259.1:p.Leu539AlafsTer3
NM_181825.3:c.1613dup	NP_861546.1:p.Leu539AlafsTer3
NM_181828.3:c.1487dup	NP_861966.1:p.Leu497AlafsTer3
NM_181829.3:c.1490dup	NP_861967.1:p.Leu498AlafsTer3
NM_181830.3:c.1364dup	NP_861968.1:p.Leu456AlafsTer3
NM_181831.3:c.1364dup	NP_861969.1:p.Leu456AlafsTer3
NM_181832.3:c.1613dup	NP_861970.1:p.Leu539AlafsTer3
NR_156186.2:n.2095dup
NM_181833.3:c.448-13275dup	NP_861971.1:n.448-13275dup