Canonical Allele Identifier: CA2573157892

Gene: NF2

Linked Data

• ClinVar Variation Id: 1436330
• ClinVar RCV Id: RCV001987319
• dbSNP Id: rs2147122568

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29681473_29681478del , CM000684.2:g.29681473_29681478del	GRCh38
NC_000022.10:g.30077462_30077467del , CM000684.1:g.30077462_30077467del	GRCh37
NC_000022.9:g.28407462_28407467del	NCBI36
NG_009057.1:g.82918_82923del , LRG_511:g.82918_82923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1474_1479del	ENSP00000354529.6:p.Glu492_Gln493del
ENST00000673312.2:c.*1103_*1108del	ENSP00000500186.2:n.*1103_*1108del
ENST00000338641.10:c.1609_1614del MANE Select	ENSP00000344666.5:p.Glu537_Gln538del
ENST00000361166.9:c.1027_1032del	ENSP00000354529.5:p.Glu343_Gln344del
ENST00000672461.1:c.1609_1614del	ENSP00000500919.1:p.Glu537_Gln538del
ENST00000672805.1:c.*1491_*1496del	ENSP00000500295.1:n.*1491_*1496del
ENST00000672896.1:c.1609_1614del	ENSP00000500117.1:p.Glu537_Gln538del
ENST00000673312.1:c.1628_1633del	ENSP00000500186.1:n.1628_1633del
ENST00000334961.11:c.1360_1365del	ENSP00000335652.7:p.Glu454_Gln455del
ENST00000338641.8:c.1609_1614del	ENSP00000344666.4:p.Glu537_Gln538del
ENST00000353887.8:c.1360_1365del	ENSP00000340626.4:p.Glu454_Gln455del
ENST00000361166.8:c.1609_1614del	ENSP00000354529.4:p.Glu537_Gln538del
ENST00000361452.8:c.1486_1491del	ENSP00000354897.4:p.Glu496_Gln497del
ENST00000361676.8:c.1483_1488del	ENSP00000355183.4:p.Glu495_Gln496del
ENST00000397789.3:c.1609_1614del	ENSP00000380891.3:p.Glu537_Gln538del
ENST00000403435.5:c.1522_1527del	ENSP00000384029.1:p.Glu508_Gln509del
ENST00000403999.7:c.1609_1614del	ENSP00000384797.3:p.Glu537_Gln538del
ENST00000413209.6:c.448-13279_448-13274del	ENSP00000409921.2:n.448-13279_448-13274del
ENST00000432151.5:c.*93+3150_*93+3155del	ENSP00000395885.1:n.*93+3150_*93+3155del
NM_000268.3:c.1609_1614del , LRG_511t1:c.1609_1614del	NP_000259.1:p.Glu537_Gln538del
NM_016418.5:c.1609_1614del , LRG_511t2:c.1609_1614del	NP_057502.2:p.Glu537_Gln538del
NM_181825.2:c.1609_1614del	NP_861546.1:p.Glu537_Gln538del
NM_181828.2:c.1483_1488del	NP_861966.1:p.Glu495_Gln496del
NM_181829.2:c.1486_1491del	NP_861967.1:p.Glu496_Gln497del
NM_181830.2:c.1360_1365del	NP_861968.1:p.Glu454_Gln455del
NM_181831.2:c.1360_1365del	NP_861969.1:p.Glu454_Gln455del
NM_181832.2:c.1609_1614del	NP_861970.1:p.Glu537_Gln538del
NM_181833.2:c.448-13279_448-13274del	NP_861971.1:n.448-13279_448-13274del
NR_156186.1:n.2168_2173del
XM_017028809.2:c.1495_1500del	XP_016884298.1:p.Glu499_Gln500del
XM_017028810.1:c.1495_1500del	XP_016884299.1:p.Glu499_Gln500del
NM_000268.4:c.1609_1614del MANE Select	NP_000259.1:p.Glu537_Gln538del
NM_181825.3:c.1609_1614del	NP_861546.1:p.Glu537_Gln538del
NM_181828.3:c.1483_1488del	NP_861966.1:p.Glu495_Gln496del
NM_181829.3:c.1486_1491del	NP_861967.1:p.Glu496_Gln497del
NM_181830.3:c.1360_1365del	NP_861968.1:p.Glu454_Gln455del
NM_181831.3:c.1360_1365del	NP_861969.1:p.Glu454_Gln455del
NM_181832.3:c.1609_1614del	NP_861970.1:p.Glu537_Gln538del
NR_156186.2:n.2091_2096del
NM_181833.3:c.448-13279_448-13274del	NP_861971.1:n.448-13279_448-13274del