Canonical Allele Identifier: CA645601061

Gene: NF2

Linked Data

• COSMIC: COSM22259

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661221_29661222del , CM000684.2:g.29661221_29661222del	GRCh38
NC_000022.10:g.30057210_30057211del , CM000684.1:g.30057210_30057211del	GRCh37
NC_000022.9:g.28387210_28387211del	NCBI36
NG_009057.1:g.62666_62667del , LRG_511:g.62666_62667del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+2957_675+2958del	ENSP00000354529.6:n.675+2957_675+2958del
ENST00000673312.2:c.*186_*187del	ENSP00000500186.2:n.*186_*187del
ENST00000338641.10:c.692_693del MANE Select	ENSP00000344666.5:p.Glu231AlafsTer14
ENST00000361166.9:c.228+2957_228+2958del	ENSP00000354529.5:n.228+2957_228+2958del
ENST00000672461.1:c.692_693del	ENSP00000500919.1:p.Glu231AlafsTer14
ENST00000672805.1:c.*574_*575del	ENSP00000500295.1:n.*574_*575del
ENST00000672896.1:c.692_693del	ENSP00000500117.1:p.Glu231AlafsTer14
ENST00000673312.1:c.711_712del	ENSP00000500186.1:n.711_712del
ENST00000334961.11:c.443_444del	ENSP00000335652.7:p.Glu148AlafsTer14
ENST00000338641.8:c.692_693del	ENSP00000344666.4:p.Glu231AlafsTer14
ENST00000353887.8:c.443_444del	ENSP00000340626.4:p.Glu148AlafsTer14
ENST00000361166.8:c.692_693del	ENSP00000354529.4:p.Glu231AlafsTer14
ENST00000361452.8:c.569_570del	ENSP00000354897.4:p.Glu190AlafsTer14
ENST00000361676.8:c.566_567del	ENSP00000355183.4:p.Glu189AlafsTer14
ENST00000397789.3:c.692_693del	ENSP00000380891.3:p.Glu231AlafsTer14
ENST00000403435.5:c.692_693del	ENSP00000384029.1:p.Glu231AlafsTer14
ENST00000403999.7:c.692_693del	ENSP00000384797.3:p.Glu231AlafsTer14
ENST00000413209.6:c.447+18936_447+18937del	ENSP00000409921.2:n.447+18936_447+18937de...
ENST00000432151.5:c.215_216del	ENSP00000395885.1:p.Glu72AlafsTer14
NM_000268.3:c.692_693del , LRG_511t1:c.692_693del	NP_000259.1:p.Glu231AlafsTer14
NM_016418.5:c.692_693del , LRG_511t2:c.692_693del	NP_057502.2:p.Glu231AlafsTer14
NM_181825.2:c.692_693del	NP_861546.1:p.Glu231AlafsTer14
NM_181828.2:c.566_567del	NP_861966.1:p.Glu189AlafsTer14
NM_181829.2:c.569_570del	NP_861967.1:p.Glu190AlafsTer14
NM_181830.2:c.443_444del	NP_861968.1:p.Glu148AlafsTer14
NM_181831.2:c.443_444del	NP_861969.1:p.Glu148AlafsTer14
NM_181832.2:c.692_693del	NP_861970.1:p.Glu231AlafsTer14
NM_181833.2:c.447+18936_447+18937del	NP_861971.1:n.447+18936_447+18937del
NR_156186.1:n.1251_1252del
XM_017028809.2:c.578_579del	XP_016884298.1:p.Glu193AlafsTer14
XM_017028810.1:c.578_579del	XP_016884299.1:p.Glu193AlafsTer14
NM_000268.4:c.692_693del MANE Select	NP_000259.1:p.Glu231AlafsTer14
NM_181825.3:c.692_693del	NP_861546.1:p.Glu231AlafsTer14
NM_181828.3:c.566_567del	NP_861966.1:p.Glu189AlafsTer14
NM_181829.3:c.569_570del	NP_861967.1:p.Glu190AlafsTer14
NM_181830.3:c.443_444del	NP_861968.1:p.Glu148AlafsTer14
NM_181831.3:c.443_444del	NP_861969.1:p.Glu148AlafsTer14
NM_181832.3:c.692_693del	NP_861970.1:p.Glu231AlafsTer14
NR_156186.2:n.1174_1175del
NM_181833.3:c.447+18936_447+18937del	NP_861971.1:n.447+18936_447+18937del