Canonical Allele Identifier: CA645601076

Gene: NF2

Linked Data

• COSMIC: COSM128697

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661330_29661331dup , CM000684.2:g.29661330_29661331dup	GRCh38
NC_000022.10:g.30057319_30057320dup , CM000684.1:g.30057319_30057320dup	GRCh37
NC_000022.9:g.28387319_28387320dup	NCBI36
NG_009057.1:g.62775_62776dup , LRG_511:g.62775_62776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.675+3066_675+3067dup	ENSP00000354529.6:n.675+3066_675+3067dup
ENST00000673312.2:c.*295_*296dup	ENSP00000500186.2:n.*295_*296dup
ENST00000338641.10:c.801_802dup MANE Select	ENSP00000344666.5:p.Asp268ValfsTer29
ENST00000361166.9:c.228+3066_228+3067dup	ENSP00000354529.5:n.228+3066_228+3067dup
ENST00000672461.1:c.801_802dup	ENSP00000500919.1:p.Asp268ValfsTer29
ENST00000672805.1:c.*683_*684dup	ENSP00000500295.1:n.*683_*684dup
ENST00000672896.1:c.801_802dup	ENSP00000500117.1:p.Asp268ValfsTer29
ENST00000673312.1:c.820_821dup	ENSP00000500186.1:n.820_821dup
ENST00000334961.11:c.552_553dup	ENSP00000335652.7:p.Asp185ValfsTer29
ENST00000338641.8:c.801_802dup	ENSP00000344666.4:p.Asp268ValfsTer29
ENST00000353887.8:c.552_553dup	ENSP00000340626.4:p.Asp185ValfsTer29
ENST00000361166.8:c.801_802dup	ENSP00000354529.4:p.Asp268ValfsTer29
ENST00000361452.8:c.678_679dup	ENSP00000354897.4:p.Asp227ValfsTer29
ENST00000361676.8:c.675_676dup	ENSP00000355183.4:p.Asp226ValfsTer29
ENST00000397789.3:c.801_802dup	ENSP00000380891.3:p.Asp268ValfsTer29
ENST00000403435.5:c.801_802dup	ENSP00000384029.1:p.Asp268ValfsTer29
ENST00000403999.7:c.801_802dup	ENSP00000384797.3:p.Asp268ValfsTer29
ENST00000413209.6:c.447+19045_447+19046dup	ENSP00000409921.2:n.447+19045_447+19046dup
ENST00000432151.5:c.324_325dup	ENSP00000395885.1:p.Asp109ValfsTer29
NM_000268.3:c.801_802dup , LRG_511t1:c.801_802dup	NP_000259.1:p.Asp268ValfsTer29
NM_016418.5:c.801_802dup , LRG_511t2:c.801_802dup	NP_057502.2:p.Asp268ValfsTer29
NM_181825.2:c.801_802dup	NP_861546.1:p.Asp268ValfsTer29
NM_181828.2:c.675_676dup	NP_861966.1:p.Asp226ValfsTer29
NM_181829.2:c.678_679dup	NP_861967.1:p.Asp227ValfsTer29
NM_181830.2:c.552_553dup	NP_861968.1:p.Asp185ValfsTer29
NM_181831.2:c.552_553dup	NP_861969.1:p.Asp185ValfsTer29
NM_181832.2:c.801_802dup	NP_861970.1:p.Asp268ValfsTer29
NM_181833.2:c.447+19045_447+19046dup	NP_861971.1:n.447+19045_447+19046dup
NR_156186.1:n.1360_1361dup
XM_017028809.2:c.687_688dup	XP_016884298.1:p.Asp230ValfsTer29
XM_017028810.1:c.687_688dup	XP_016884299.1:p.Asp230ValfsTer29
NM_000268.4:c.801_802dup MANE Select	NP_000259.1:p.Asp268ValfsTer29
NM_181825.3:c.801_802dup	NP_861546.1:p.Asp268ValfsTer29
NM_181828.3:c.675_676dup	NP_861966.1:p.Asp226ValfsTer29
NM_181829.3:c.678_679dup	NP_861967.1:p.Asp227ValfsTer29
NM_181830.3:c.552_553dup	NP_861968.1:p.Asp185ValfsTer29
NM_181831.3:c.552_553dup	NP_861969.1:p.Asp185ValfsTer29
NM_181832.3:c.801_802dup	NP_861970.1:p.Asp268ValfsTer29
NR_156186.2:n.1283_1284dup
NM_181833.3:c.447+19045_447+19046dup	NP_861971.1:n.447+19045_447+19046dup