Canonical Allele Identifier: CA645601201

Gene: NF2

Linked Data

• COSMIC: COSM26687

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678280_29678312delinsAATAC , CM000684.2:g.29678280_29678312delinsAATAC	GRCh38
NC_000022.10:g.30074269_30074301delinsAATAC , CM000684.1:g.30074269_30074301delinsAATAC	GRCh37
NC_000022.9:g.28404269_28404301delinsAATAC	NCBI36
NG_009057.1:g.79725_79757delinsAATAC , LRG_511:g.79725_79757delinsAATAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1396_1428delinsAATAC	ENSP00000354529.6:p.Asp466AsnfsTer30
ENST00000673312.2:c.*1025_*1057delinsAATAC	ENSP00000500186.2:n.*1025_*1057delinsAATA...
ENST00000338641.10:c.1531_1563delinsAATAC MANE Select	ENSP00000344666.5:p.Asp511AsnfsTer30
ENST00000361166.9:c.949_981delinsAATAC	ENSP00000354529.5:p.Asp317AsnfsTer30
ENST00000672461.1:c.1531_1563delinsAATAC	ENSP00000500919.1:p.Asp511AsnfsTer30
ENST00000672805.1:c.*1413_*1445delinsAATAC	ENSP00000500295.1:n.*1413_*1445delinsAATA...
ENST00000672896.1:c.1531_1563delinsAATAC	ENSP00000500117.1:p.Asp511AsnfsTer30
ENST00000673312.1:c.1550_1582delinsAATAC	ENSP00000500186.1:n.1550_1582delinsAATAC
ENST00000334961.11:c.1282_1314delinsAATAC	ENSP00000335652.7:p.Asp428AsnfsTer30
ENST00000338641.8:c.1531_1563delinsAATAC	ENSP00000344666.4:p.Asp511AsnfsTer30
ENST00000353887.8:c.1282_1314delinsAATAC	ENSP00000340626.4:p.Asp428AsnfsTer30
ENST00000361166.8:c.1531_1563delinsAATAC	ENSP00000354529.4:p.Asp511AsnfsTer30
ENST00000361452.8:c.1408_1440delinsAATAC	ENSP00000354897.4:p.Asp470AsnfsTer30
ENST00000361676.8:c.1405_1437delinsAATAC	ENSP00000355183.4:p.Asp469AsnfsTer30
ENST00000397789.3:c.1531_1563delinsAATAC	ENSP00000380891.3:p.Asp511AsnfsTer30
ENST00000403435.5:c.1444_1476delinsAATAC	ENSP00000384029.1:p.Asp482AsnfsTer30
ENST00000403999.7:c.1531_1563delinsAATAC	ENSP00000384797.3:p.Asp511AsnfsTer30
ENST00000413209.6:c.448-16472_448-16440delinsAATAC	ENSP00000409921.2:n.448-16472_448-16440de...
ENST00000432151.5:c.*50_*82delinsAATAC	ENSP00000395885.1:n.*50_*82delinsAATAC
NM_000268.3:c.1531_1563delinsAATAC , LRG_511t1:c.1531_1563delinsAATAC	NP_000259.1:p.Asp511AsnfsTer30
NM_016418.5:c.1531_1563delinsAATAC , LRG_511t2:c.1531_1563delinsAATAC	NP_057502.2:p.Asp511AsnfsTer30
NM_181825.2:c.1531_1563delinsAATAC	NP_861546.1:p.Asp511AsnfsTer30
NM_181828.2:c.1405_1437delinsAATAC	NP_861966.1:p.Asp469AsnfsTer30
NM_181829.2:c.1408_1440delinsAATAC	NP_861967.1:p.Asp470AsnfsTer30
NM_181830.2:c.1282_1314delinsAATAC	NP_861968.1:p.Asp428AsnfsTer30
NM_181831.2:c.1282_1314delinsAATAC	NP_861969.1:p.Asp428AsnfsTer30
NM_181832.2:c.1531_1563delinsAATAC	NP_861970.1:p.Asp511AsnfsTer30
NM_181833.2:c.448-16472_448-16440delinsAATAC	NP_861971.1:n.448-16472_448-16440delinsAA...
NR_156186.1:n.2090_2122delinsAATAC
XM_017028809.2:c.1417_1449delinsAATAC	XP_016884298.1:p.Asp473AsnfsTer30
XM_017028810.1:c.1417_1449delinsAATAC	XP_016884299.1:p.Asp473AsnfsTer30
NM_000268.4:c.1531_1563delinsAATAC MANE Select	NP_000259.1:p.Asp511AsnfsTer30
NM_181825.3:c.1531_1563delinsAATAC	NP_861546.1:p.Asp511AsnfsTer30
NM_181828.3:c.1405_1437delinsAATAC	NP_861966.1:p.Asp469AsnfsTer30
NM_181829.3:c.1408_1440delinsAATAC	NP_861967.1:p.Asp470AsnfsTer30
NM_181830.3:c.1282_1314delinsAATAC	NP_861968.1:p.Asp428AsnfsTer30
NM_181831.3:c.1282_1314delinsAATAC	NP_861969.1:p.Asp428AsnfsTer30
NM_181832.3:c.1531_1563delinsAATAC	NP_861970.1:p.Asp511AsnfsTer30
NR_156186.2:n.2013_2045delinsAATAC
NM_181833.3:c.448-16472_448-16440delinsAATAC	NP_861971.1:n.448-16472_448-16440delinsAA...