Canonical Allele Identifier: CA645601134

Gene: NF2

Linked Data

• COSMIC: COSM22241

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673363_29673364del , CM000684.2:g.29673363_29673364del	GRCh38
NC_000022.10:g.30069352_30069353del , CM000684.1:g.30069352_30069353del	GRCh37
NC_000022.9:g.28399352_28399353del	NCBI36
NG_009057.1:g.74808_74809del , LRG_511:g.74808_74809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1082_1083del	ENSP00000354529.6:p.Glu361AlafsTer?
ENST00000673312.2:c.*711_*712del	ENSP00000500186.2:n.*711_*712del
ENST00000338641.10:c.1217_1218del MANE Select	ENSP00000344666.5:p.Glu406AlafsTer?
ENST00000361166.9:c.635_636del	ENSP00000354529.5:p.Glu212AlafsTer?
ENST00000672461.1:c.1217_1218del	ENSP00000500919.1:p.Glu406AlafsTer?
ENST00000672805.1:c.*1099_*1100del	ENSP00000500295.1:n.*1099_*1100del
ENST00000672896.1:c.1217_1218del	ENSP00000500117.1:p.Glu406AlafsTer?
ENST00000673312.1:c.1236_1237del	ENSP00000500186.1:n.1236_1237del
ENST00000334961.11:c.968_969del	ENSP00000335652.7:p.Glu323AlafsTer?
ENST00000338641.8:c.1217_1218del	ENSP00000344666.4:p.Glu406AlafsTer?
ENST00000353887.8:c.968_969del	ENSP00000340626.4:p.Glu323AlafsTer?
ENST00000361166.8:c.1217_1218del	ENSP00000354529.4:p.Glu406AlafsTer?
ENST00000361452.8:c.1094_1095del	ENSP00000354897.4:p.Glu365AlafsTer?
ENST00000361676.8:c.1091_1092del	ENSP00000355183.4:p.Glu364AlafsTer?
ENST00000397789.3:c.1217_1218del	ENSP00000380891.3:p.Glu406AlafsTer?
ENST00000403435.5:c.1130_1131del	ENSP00000384029.1:p.Glu377AlafsTer?
ENST00000403999.7:c.1217_1218del	ENSP00000384797.3:p.Glu406AlafsTer?
ENST00000413209.6:c.448-21389_448-21388del	ENSP00000409921.2:n.448-21389_448-21388del
ENST00000432151.5:c.523-1473_523-1472del	ENSP00000395885.1:n.523-1473_523-1472del
NM_000268.3:c.1217_1218del , LRG_511t1:c.1217_1218del	NP_000259.1:p.Glu406AlafsTer?
NM_016418.5:c.1217_1218del , LRG_511t2:c.1217_1218del	NP_057502.2:p.Glu406AlafsTer?
NM_181825.2:c.1217_1218del	NP_861546.1:p.Glu406AlafsTer?
NM_181828.2:c.1091_1092del	NP_861966.1:p.Glu364AlafsTer?
NM_181829.2:c.1094_1095del	NP_861967.1:p.Glu365AlafsTer?
NM_181830.2:c.968_969del	NP_861968.1:p.Glu323AlafsTer?
NM_181831.2:c.968_969del	NP_861969.1:p.Glu323AlafsTer?
NM_181832.2:c.1217_1218del	NP_861970.1:p.Glu406AlafsTer?
NM_181833.2:c.448-21389_448-21388del	NP_861971.1:n.448-21389_448-21388del
NR_156186.1:n.1776_1777del
XM_017028809.2:c.1103_1104del	XP_016884298.1:p.Glu368AlafsTer?
XM_017028810.1:c.1103_1104del	XP_016884299.1:p.Glu368AlafsTer?
NM_000268.4:c.1217_1218del MANE Select	NP_000259.1:p.Glu406AlafsTer?
NM_181825.3:c.1217_1218del	NP_861546.1:p.Glu406AlafsTer?
NM_181828.3:c.1091_1092del	NP_861966.1:p.Glu364AlafsTer?
NM_181829.3:c.1094_1095del	NP_861967.1:p.Glu365AlafsTer?
NM_181830.3:c.968_969del	NP_861968.1:p.Glu323AlafsTer?
NM_181831.3:c.968_969del	NP_861969.1:p.Glu323AlafsTer?
NM_181832.3:c.1217_1218del	NP_861970.1:p.Glu406AlafsTer?
NR_156186.2:n.1699_1700del
NM_181833.3:c.448-21389_448-21388del	NP_861971.1:n.448-21389_448-21388del