Canonical Allele Identifier: CA2400683965

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674890_29674891delinsGC , CM000684.2:g.29674890_29674891delinsGC	GRCh38
NC_000022.10:g.30070879_30070880delinsGC , CM000684.1:g.30070879_30070880delinsGC	GRCh37
NC_000022.9:g.28400879_28400880delinsGC	NCBI36
NG_009057.1:g.76335_76336delinsGC , LRG_511:g.76335_76336delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1260_1261delinsGC	ENSP00000354529.6:p.Glu420=
ENST00000673312.2:c.*889_*890delinsGC	ENSP00000500186.2:n.*889_*890delinsGC
ENST00000338641.10:c.1395_1396delinsGC MANE Select	ENSP00000344666.5:p.Glu465=
ENST00000361166.9:c.813_814delinsGC	ENSP00000354529.5:p.Glu271=
ENST00000672461.1:c.1395_1396delinsGC	ENSP00000500919.1:p.Glu465=
ENST00000672805.1:c.*1277_*1278delinsGC	ENSP00000500295.1:n.*1277_*1278delinsGC
ENST00000672896.1:c.1395_1396delinsGC	ENSP00000500117.1:p.Glu465=
ENST00000673312.1:c.1414_1415delinsGC	ENSP00000500186.1:n.1414_1415delinsGC
ENST00000334961.11:c.1146_1147delinsGC	ENSP00000335652.7:p.Glu382=
ENST00000338641.8:c.1395_1396delinsGC	ENSP00000344666.4:p.Glu465=
ENST00000353887.8:c.1146_1147delinsGC	ENSP00000340626.4:p.Glu382=
ENST00000361166.8:c.1395_1396delinsGC	ENSP00000354529.4:p.Glu465=
ENST00000361452.8:c.1272_1273delinsGC	ENSP00000354897.4:p.Glu424=
ENST00000361676.8:c.1269_1270delinsGC	ENSP00000355183.4:p.Glu423=
ENST00000397789.3:c.1395_1396delinsGC	ENSP00000380891.3:p.Glu465=
ENST00000403435.5:c.1308_1309delinsGC	ENSP00000384029.1:p.Glu436=
ENST00000403999.7:c.1395_1396delinsGC	ENSP00000384797.3:p.Glu465=
ENST00000413209.6:c.448-19862_448-19861delinsGC	ENSP00000409921.2:n.448-19862_448-19861delinsGC
ENST00000432151.5:c.577_578delinsGC	ENSP00000395885.1:p.Ala193=
NM_000268.3:c.1395_1396delinsGC , LRG_511t1:c.1395_1396delinsGC	NP_000259.1:p.Glu465=
NM_016418.5:c.1395_1396delinsGC , LRG_511t2:c.1395_1396delinsGC	NP_057502.2:p.Glu465=
NM_181825.2:c.1395_1396delinsGC	NP_861546.1:p.Glu465=
NM_181828.2:c.1269_1270delinsGC	NP_861966.1:p.Glu423=
NM_181829.2:c.1272_1273delinsGC	NP_861967.1:p.Glu424=
NM_181830.2:c.1146_1147delinsGC	NP_861968.1:p.Glu382=
NM_181831.2:c.1146_1147delinsGC	NP_861969.1:p.Glu382=
NM_181832.2:c.1395_1396delinsGC	NP_861970.1:p.Glu465=
NM_181833.2:c.448-19862_448-19861delinsGC	NP_861971.1:n.448-19862_448-19861delinsGC
NR_156186.1:n.1954_1955delinsGC
XM_017028809.2:c.1281_1282delinsGC	XP_016884298.1:p.Glu427=
XM_017028810.1:c.1281_1282delinsGC	XP_016884299.1:p.Glu427=
NM_000268.4:c.1395_1396delinsGC MANE Select	NP_000259.1:p.Glu465=
NM_181825.3:c.1395_1396delinsGC	NP_861546.1:p.Glu465=
NM_181828.3:c.1269_1270delinsGC	NP_861966.1:p.Glu423=
NM_181829.3:c.1272_1273delinsGC	NP_861967.1:p.Glu424=
NM_181830.3:c.1146_1147delinsGC	NP_861968.1:p.Glu382=
NM_181831.3:c.1146_1147delinsGC	NP_861969.1:p.Glu382=
NM_181832.3:c.1395_1396delinsGC	NP_861970.1:p.Glu465=
NR_156186.2:n.1877_1878delinsGC
NM_181833.3:c.448-19862_448-19861delinsGC	NP_861971.1:n.448-19862_448-19861delinsGC