Canonical Allele Identifier: CA645601071

Gene: NF2

Linked Data

• COSMIC: COSM22452

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661286_29661324del , CM000684.2:g.29661286_29661324del	GRCh38
NC_000022.10:g.30057275_30057313del , CM000684.1:g.30057275_30057313del	GRCh37
NC_000022.9:g.28387275_28387313del	NCBI36
NG_009057.1:g.62731_62769del , LRG_511:g.62731_62769del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+3022_675+3060del	ENSP00000354529.6:n.675+3022_675+3060del
ENST00000673312.2:c.*251_*289del	ENSP00000500186.2:n.*251_*289del
ENST00000338641.10:c.757_795del MANE Select	ENSP00000344666.5:p.Lys253_Ser265del
ENST00000361166.9:c.228+3022_228+3060del	ENSP00000354529.5:n.228+3022_228+3060del
ENST00000672461.1:c.757_795del	ENSP00000500919.1:p.Lys253_Ser265del
ENST00000672805.1:c.*639_*677del	ENSP00000500295.1:n.*639_*677del
ENST00000672896.1:c.757_795del	ENSP00000500117.1:p.Lys253_Ser265del
ENST00000673312.1:c.776_814del	ENSP00000500186.1:n.776_814del
ENST00000334961.11:c.508_546del	ENSP00000335652.7:p.Lys170_Ser182del
ENST00000338641.8:c.757_795del	ENSP00000344666.4:p.Lys253_Ser265del
ENST00000353887.8:c.508_546del	ENSP00000340626.4:p.Lys170_Ser182del
ENST00000361166.8:c.757_795del	ENSP00000354529.4:p.Lys253_Ser265del
ENST00000361452.8:c.634_672del	ENSP00000354897.4:p.Lys212_Ser224del
ENST00000361676.8:c.631_669del	ENSP00000355183.4:p.Lys211_Ser223del
ENST00000397789.3:c.757_795del	ENSP00000380891.3:p.Lys253_Ser265del
ENST00000403435.5:c.757_795del	ENSP00000384029.1:p.Lys253_Ser265del
ENST00000403999.7:c.757_795del	ENSP00000384797.3:p.Lys253_Ser265del
ENST00000413209.6:c.447+19001_447+19039del	ENSP00000409921.2:n.447+19001_447+19039de...
ENST00000432151.5:c.280_318del	ENSP00000395885.1:p.Lys94_Ser106del
NM_000268.3:c.757_795del , LRG_511t1:c.757_795del	NP_000259.1:p.Lys253_Ser265del
NM_016418.5:c.757_795del , LRG_511t2:c.757_795del	NP_057502.2:p.Lys253_Ser265del
NM_181825.2:c.757_795del	NP_861546.1:p.Lys253_Ser265del
NM_181828.2:c.631_669del	NP_861966.1:p.Lys211_Ser223del
NM_181829.2:c.634_672del	NP_861967.1:p.Lys212_Ser224del
NM_181830.2:c.508_546del	NP_861968.1:p.Lys170_Ser182del
NM_181831.2:c.508_546del	NP_861969.1:p.Lys170_Ser182del
NM_181832.2:c.757_795del	NP_861970.1:p.Lys253_Ser265del
NM_181833.2:c.447+19001_447+19039del	NP_861971.1:n.447+19001_447+19039del
NR_156186.1:n.1316_1354del
XM_017028809.2:c.643_681del	XP_016884298.1:p.Lys215_Ser227del
XM_017028810.1:c.643_681del	XP_016884299.1:p.Lys215_Ser227del
NM_000268.4:c.757_795del MANE Select	NP_000259.1:p.Lys253_Ser265del
NM_181825.3:c.757_795del	NP_861546.1:p.Lys253_Ser265del
NM_181828.3:c.631_669del	NP_861966.1:p.Lys211_Ser223del
NM_181829.3:c.634_672del	NP_861967.1:p.Lys212_Ser224del
NM_181830.3:c.508_546del	NP_861968.1:p.Lys170_Ser182del
NM_181831.3:c.508_546del	NP_861969.1:p.Lys170_Ser182del
NM_181832.3:c.757_795del	NP_861970.1:p.Lys253_Ser265del
NR_156186.2:n.1239_1277del
NM_181833.3:c.447+19001_447+19039del	NP_861971.1:n.447+19001_447+19039del