Canonical Allele Identifier: CA645601179

Gene: NF2

Linked Data

• COSMIC: COSM22411

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674935_29674940delinsTGGGGCTGCCTTAGTCCTG , CM000684.2:g.29674935_29674940delinsTGGGGCTGCCTTAGTCCTG	GRCh38
NC_000022.10:g.30070924_30070929delinsTGGGGCTGCCTTAGTCCTG , CM000684.1:g.30070924_30070929delinsTGGGGCTGCCTTAGTCCTG	GRCh37
NC_000022.9:g.28400924_28400929delinsTGGGGCTGCCTTAGTCCTG	NCBI36
NG_009057.1:g.76380_76385delinsTGGGGCTGCCTTAGTCCTG , LRG_511:g.76380_76385delinsTGGGGCTGCCTTAGTCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1305_1310delinsTGGGGCTGCCTTAGTCCTG	ENSP00000354529.6:p.Tyr436GlyfsTer18
ENST00000673312.2:c.*934_*939delinsTGGGGCTGCCTTAGTCCTG	ENSP00000500186.2:n.*934_*939delinsTGGGGCTGCCTTAGTCCTG
ENST00000338641.10:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG MANE Select	ENSP00000344666.5:p.Tyr481GlyfsTer18
ENST00000361166.9:c.858_863delinsTGGGGCTGCCTTAGTCCTG	ENSP00000354529.5:p.Tyr287GlyfsTer18
ENST00000672461.1:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	ENSP00000500919.1:p.Tyr481GlyfsTer18
ENST00000672805.1:c.*1322_*1327delinsTGGGGCTGCCTTAGTCCTG	ENSP00000500295.1:n.*1322_*1327delinsTGGGGCTGCCTTAGTCCTG
ENST00000672896.1:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	ENSP00000500117.1:p.Tyr481GlyfsTer18
ENST00000673312.1:c.1459_1464delinsTGGGGCTGCCTTAGTCCTG	ENSP00000500186.1:n.1459_1464delinsTGGGGCTGCCTTAGTCCTG
ENST00000334961.11:c.1191_1196delinsTGGGGCTGCCTTAGTCCTG	ENSP00000335652.7:p.Tyr398GlyfsTer18
ENST00000338641.8:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	ENSP00000344666.4:p.Tyr481GlyfsTer18
ENST00000353887.8:c.1191_1196delinsTGGGGCTGCCTTAGTCCTG	ENSP00000340626.4:p.Tyr398GlyfsTer18
ENST00000361166.8:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	ENSP00000354529.4:p.Tyr481GlyfsTer18
ENST00000361452.8:c.1317_1322delinsTGGGGCTGCCTTAGTCCTG	ENSP00000354897.4:p.Tyr440GlyfsTer18
ENST00000361676.8:c.1314_1319delinsTGGGGCTGCCTTAGTCCTG	ENSP00000355183.4:p.Tyr439GlyfsTer18
ENST00000397789.3:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	ENSP00000380891.3:p.Tyr481GlyfsTer18
ENST00000403435.5:c.1353_1358delinsTGGGGCTGCCTTAGTCCTG	ENSP00000384029.1:p.Tyr452GlyfsTer18
ENST00000403999.7:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	ENSP00000384797.3:p.Tyr481GlyfsTer18
ENST00000413209.6:c.448-19817_448-19812delinsTGGGGCTGCCTTAGTCCTG	ENSP00000409921.2:n.448-19817_448-19812delinsTGGGGCTGCCTTAGTC...
ENST00000432151.5:c.622_627delinsTGGGGCTGCCTTAGTCCTG	ENSP00000395885.1:p.Val208TrpfsTer9
NM_000268.3:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG , LRG_511t1:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	NP_000259.1:p.Tyr481GlyfsTer18
NM_016418.5:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG , LRG_511t2:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	NP_057502.2:p.Tyr481GlyfsTer18
NM_181825.2:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	NP_861546.1:p.Tyr481GlyfsTer18
NM_181828.2:c.1314_1319delinsTGGGGCTGCCTTAGTCCTG	NP_861966.1:p.Tyr439GlyfsTer18
NM_181829.2:c.1317_1322delinsTGGGGCTGCCTTAGTCCTG	NP_861967.1:p.Tyr440GlyfsTer18
NM_181830.2:c.1191_1196delinsTGGGGCTGCCTTAGTCCTG	NP_861968.1:p.Tyr398GlyfsTer18
NM_181831.2:c.1191_1196delinsTGGGGCTGCCTTAGTCCTG	NP_861969.1:p.Tyr398GlyfsTer18
NM_181832.2:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	NP_861970.1:p.Tyr481GlyfsTer18
NM_181833.2:c.448-19817_448-19812delinsTGGGGCTGCCTTAGTCCTG	NP_861971.1:n.448-19817_448-19812delinsTGGGGCTGCCTTAGTCCTG
NR_156186.1:n.1999_2004delinsTGGGGCTGCCTTAGTCCTG
XM_017028809.2:c.1326_1331delinsTGGGGCTGCCTTAGTCCTG	XP_016884298.1:p.Tyr443GlyfsTer18
XM_017028810.1:c.1326_1331delinsTGGGGCTGCCTTAGTCCTG	XP_016884299.1:p.Tyr443GlyfsTer18
NM_000268.4:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG MANE Select	NP_000259.1:p.Tyr481GlyfsTer18
NM_181825.3:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	NP_861546.1:p.Tyr481GlyfsTer18
NM_181828.3:c.1314_1319delinsTGGGGCTGCCTTAGTCCTG	NP_861966.1:p.Tyr439GlyfsTer18
NM_181829.3:c.1317_1322delinsTGGGGCTGCCTTAGTCCTG	NP_861967.1:p.Tyr440GlyfsTer18
NM_181830.3:c.1191_1196delinsTGGGGCTGCCTTAGTCCTG	NP_861968.1:p.Tyr398GlyfsTer18
NM_181831.3:c.1191_1196delinsTGGGGCTGCCTTAGTCCTG	NP_861969.1:p.Tyr398GlyfsTer18
NM_181832.3:c.1440_1445delinsTGGGGCTGCCTTAGTCCTG	NP_861970.1:p.Tyr481GlyfsTer18
NR_156186.2:n.1922_1927delinsTGGGGCTGCCTTAGTCCTG
NM_181833.3:c.448-19817_448-19812delinsTGGGGCTGCCTTAGTCCTG	NP_861971.1:n.448-19817_448-19812delinsTGGGGCTGCCTTAGTCCTG