Canonical Allele Identifier: CA514187807

Gene: NF2

Linked Data

• COSMIC: COSM144198
• MyVariant Identifiers: chr22:g.30070863del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674875del , CM000684.2:g.29674875del	GRCh38
NC_000022.10:g.30070864del , CM000684.1:g.30070864del	GRCh37
NC_000022.9:g.28400864del	NCBI36
NG_009057.1:g.76320del , LRG_511:g.76320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1245del	ENSP00000354529.6:p.Ala416HisfsTer24
ENST00000673312.2:c.*874del	ENSP00000500186.2:n.*874del
ENST00000338641.10:c.1380del MANE Select	ENSP00000344666.5:p.Ala461HisfsTer24
ENST00000361166.9:c.798del	ENSP00000354529.5:p.Ala267HisfsTer24
ENST00000672461.1:c.1380del	ENSP00000500919.1:p.Ala461HisfsTer24
ENST00000672805.1:c.*1262del	ENSP00000500295.1:n.*1262del
ENST00000672896.1:c.1380del	ENSP00000500117.1:p.Ala461HisfsTer24
ENST00000673312.1:c.1399del	ENSP00000500186.1:n.1399del
ENST00000334961.11:c.1131del	ENSP00000335652.7:p.Ala378HisfsTer24
ENST00000338641.8:c.1380del	ENSP00000344666.4:p.Ala461HisfsTer24
ENST00000353887.8:c.1131del	ENSP00000340626.4:p.Ala378HisfsTer24
ENST00000361166.8:c.1380del	ENSP00000354529.4:p.Ala461HisfsTer24
ENST00000361452.8:c.1257del	ENSP00000354897.4:p.Ala420HisfsTer24
ENST00000361676.8:c.1254del	ENSP00000355183.4:p.Ala419HisfsTer24
ENST00000397789.3:c.1380del	ENSP00000380891.3:p.Ala461HisfsTer24
ENST00000403435.5:c.1293del	ENSP00000384029.1:p.Ala432HisfsTer24
ENST00000403999.7:c.1380del	ENSP00000384797.3:p.Ala461HisfsTer24
ENST00000413209.6:c.448-19877del	ENSP00000409921.2:n.448-19877del
ENST00000432151.5:c.562del	ENSP00000395885.1:p.Ser188AlafsTer?
NM_000268.3:c.1380del , LRG_511t1:c.1380del	NP_000259.1:p.Ala461HisfsTer24
NM_016418.5:c.1380del , LRG_511t2:c.1380del	NP_057502.2:p.Ala461HisfsTer24
NM_181825.2:c.1380del	NP_861546.1:p.Ala461HisfsTer24
NM_181828.2:c.1254del	NP_861966.1:p.Ala419HisfsTer24
NM_181829.2:c.1257del	NP_861967.1:p.Ala420HisfsTer24
NM_181830.2:c.1131del	NP_861968.1:p.Ala378HisfsTer24
NM_181831.2:c.1131del	NP_861969.1:p.Ala378HisfsTer24
NM_181832.2:c.1380del	NP_861970.1:p.Ala461HisfsTer24
NM_181833.2:c.448-19877del	NP_861971.1:n.448-19877del
NR_156186.1:n.1939del
XM_017028809.2:c.1266del	XP_016884298.1:p.Ala423HisfsTer24
XM_017028810.1:c.1266del	XP_016884299.1:p.Ala423HisfsTer24
NM_000268.4:c.1380del MANE Select	NP_000259.1:p.Ala461HisfsTer24
NM_181825.3:c.1380del	NP_861546.1:p.Ala461HisfsTer24
NM_181828.3:c.1254del	NP_861966.1:p.Ala419HisfsTer24
NM_181829.3:c.1257del	NP_861967.1:p.Ala420HisfsTer24
NM_181830.3:c.1131del	NP_861968.1:p.Ala378HisfsTer24
NM_181831.3:c.1131del	NP_861969.1:p.Ala378HisfsTer24
NM_181832.3:c.1380del	NP_861970.1:p.Ala461HisfsTer24
NR_156186.2:n.1862del
NM_181833.3:c.448-19877del	NP_861971.1:n.448-19877del