Canonical Allele Identifier: CA514188095

Gene: NF2

Linked Data

• COSMIC: COSM22347
• MyVariant Identifiers: chr22:g.30070919del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674932del , CM000684.2:g.29674932del	GRCh38
NC_000022.10:g.30070921del , CM000684.1:g.30070921del	GRCh37
NC_000022.9:g.28400921del	NCBI36
NG_009057.1:g.76377del , LRG_511:g.76377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1302del	ENSP00000354529.6:p.Thr435ArgfsTer5
ENST00000673312.2:c.*931del	ENSP00000500186.2:n.*931del
ENST00000338641.10:c.1437del MANE Select	ENSP00000344666.5:p.Thr480ArgfsTer5
ENST00000361166.9:c.855del	ENSP00000354529.5:p.Thr286ArgfsTer5
ENST00000672461.1:c.1437del	ENSP00000500919.1:p.Thr480ArgfsTer5
ENST00000672805.1:c.*1319del	ENSP00000500295.1:n.*1319del
ENST00000672896.1:c.1437del	ENSP00000500117.1:p.Thr480ArgfsTer5
ENST00000673312.1:c.1456del	ENSP00000500186.1:n.1456del
ENST00000334961.11:c.1188del	ENSP00000335652.7:p.Thr397ArgfsTer5
ENST00000338641.8:c.1437del	ENSP00000344666.4:p.Thr480ArgfsTer5
ENST00000353887.8:c.1188del	ENSP00000340626.4:p.Thr397ArgfsTer5
ENST00000361166.8:c.1437del	ENSP00000354529.4:p.Thr480ArgfsTer5
ENST00000361452.8:c.1314del	ENSP00000354897.4:p.Thr439ArgfsTer5
ENST00000361676.8:c.1311del	ENSP00000355183.4:p.Thr438ArgfsTer5
ENST00000397789.3:c.1437del	ENSP00000380891.3:p.Thr480ArgfsTer5
ENST00000403435.5:c.1350del	ENSP00000384029.1:p.Thr451ArgfsTer5
ENST00000403999.7:c.1437del	ENSP00000384797.3:p.Thr480ArgfsTer5
ENST00000413209.6:c.448-19820del	ENSP00000409921.2:n.448-19820del
ENST00000432151.5:c.619del	ENSP00000395885.1:p.His207ThrfsTer?
NM_000268.3:c.1437del , LRG_511t1:c.1437del	NP_000259.1:p.Thr480ArgfsTer5
NM_016418.5:c.1437del , LRG_511t2:c.1437del	NP_057502.2:p.Thr480ArgfsTer5
NM_181825.2:c.1437del	NP_861546.1:p.Thr480ArgfsTer5
NM_181828.2:c.1311del	NP_861966.1:p.Thr438ArgfsTer5
NM_181829.2:c.1314del	NP_861967.1:p.Thr439ArgfsTer5
NM_181830.2:c.1188del	NP_861968.1:p.Thr397ArgfsTer5
NM_181831.2:c.1188del	NP_861969.1:p.Thr397ArgfsTer5
NM_181832.2:c.1437del	NP_861970.1:p.Thr480ArgfsTer5
NM_181833.2:c.448-19820del	NP_861971.1:n.448-19820del
NR_156186.1:n.1996del
XM_017028809.2:c.1323del	XP_016884298.1:p.Thr442ArgfsTer5
XM_017028810.1:c.1323del	XP_016884299.1:p.Thr442ArgfsTer5
NM_000268.4:c.1437del MANE Select	NP_000259.1:p.Thr480ArgfsTer5
NM_181825.3:c.1437del	NP_861546.1:p.Thr480ArgfsTer5
NM_181828.3:c.1311del	NP_861966.1:p.Thr438ArgfsTer5
NM_181829.3:c.1314del	NP_861967.1:p.Thr439ArgfsTer5
NM_181830.3:c.1188del	NP_861968.1:p.Thr397ArgfsTer5
NM_181831.3:c.1188del	NP_861969.1:p.Thr397ArgfsTer5
NM_181832.3:c.1437del	NP_861970.1:p.Thr480ArgfsTer5
NR_156186.2:n.1919del
NM_181833.3:c.448-19820del	NP_861971.1:n.448-19820del