Canonical Allele Identifier: CA2499226113

Gene: NF2

Linked Data

• ClinVar Variation Id: 1061051
• ClinVar RCV Id: RCV001370566
• dbSNP Id: rs2147108238

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678242_29678243delinsCT , CM000684.2:g.29678242_29678243delinsCT	GRCh38
NC_000022.10:g.30074231_30074232delinsCT , CM000684.1:g.30074231_30074232delinsCT	GRCh37
NC_000022.9:g.28404231_28404232delinsCT	NCBI36
NG_009057.1:g.79687_79688delinsCT , LRG_511:g.79687_79688delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1358_1359delinsCT	ENSP00000354529.6:p.Phe453Ser
ENST00000673312.2:c.*987_*988delinsCT	ENSP00000500186.2:n.*987_*988delinsCT
ENST00000338641.10:c.1493_1494delinsCT MANE Select	ENSP00000344666.5:p.Phe498Ser
ENST00000361166.9:c.911_912delinsCT	ENSP00000354529.5:p.Phe304Ser
ENST00000672461.1:c.1493_1494delinsCT	ENSP00000500919.1:p.Phe498Ser
ENST00000672805.1:c.*1375_*1376delinsCT	ENSP00000500295.1:n.*1375_*1376delinsCT
ENST00000672896.1:c.1493_1494delinsCT	ENSP00000500117.1:p.Phe498Ser
ENST00000673312.1:c.1512_1513delinsCT	ENSP00000500186.1:n.1512_1513delinsCT
ENST00000334961.11:c.1244_1245delinsCT	ENSP00000335652.7:p.Phe415Ser
ENST00000338641.8:c.1493_1494delinsCT	ENSP00000344666.4:p.Phe498Ser
ENST00000353887.8:c.1244_1245delinsCT	ENSP00000340626.4:p.Phe415Ser
ENST00000361166.8:c.1493_1494delinsCT	ENSP00000354529.4:p.Phe498Ser
ENST00000361452.8:c.1370_1371delinsCT	ENSP00000354897.4:p.Phe457Ser
ENST00000361676.8:c.1367_1368delinsCT	ENSP00000355183.4:p.Phe456Ser
ENST00000397789.3:c.1493_1494delinsCT	ENSP00000380891.3:p.Phe498Ser
ENST00000403435.5:c.1406_1407delinsCT	ENSP00000384029.1:p.Phe469Ser
ENST00000403999.7:c.1493_1494delinsCT	ENSP00000384797.3:p.Phe498Ser
ENST00000413209.6:c.448-16510_448-16509delinsCT	ENSP00000409921.2:n.448-16510_448-16509de...
ENST00000432151.5:c.*12_*13delinsCT	ENSP00000395885.1:n.*12_*13delinsCT
NM_000268.3:c.1493_1494delinsCT , LRG_511t1:c.1493_1494delinsCT	NP_000259.1:p.Phe498Ser
NM_016418.5:c.1493_1494delinsCT , LRG_511t2:c.1493_1494delinsCT	NP_057502.2:p.Phe498Ser
NM_181825.2:c.1493_1494delinsCT	NP_861546.1:p.Phe498Ser
NM_181828.2:c.1367_1368delinsCT	NP_861966.1:p.Phe456Ser
NM_181829.2:c.1370_1371delinsCT	NP_861967.1:p.Phe457Ser
NM_181830.2:c.1244_1245delinsCT	NP_861968.1:p.Phe415Ser
NM_181831.2:c.1244_1245delinsCT	NP_861969.1:p.Phe415Ser
NM_181832.2:c.1493_1494delinsCT	NP_861970.1:p.Phe498Ser
NM_181833.2:c.448-16510_448-16509delinsCT	NP_861971.1:n.448-16510_448-16509delinsCT...
NR_156186.1:n.2052_2053delinsCT
XM_017028809.2:c.1379_1380delinsCT	XP_016884298.1:p.Phe460Ser
XM_017028810.1:c.1379_1380delinsCT	XP_016884299.1:p.Phe460Ser
NM_000268.4:c.1493_1494delinsCT MANE Select	NP_000259.1:p.Phe498Ser
NM_181825.3:c.1493_1494delinsCT	NP_861546.1:p.Phe498Ser
NM_181828.3:c.1367_1368delinsCT	NP_861966.1:p.Phe456Ser
NM_181829.3:c.1370_1371delinsCT	NP_861967.1:p.Phe457Ser
NM_181830.3:c.1244_1245delinsCT	NP_861968.1:p.Phe415Ser
NM_181831.3:c.1244_1245delinsCT	NP_861969.1:p.Phe415Ser
NM_181832.3:c.1493_1494delinsCT	NP_861970.1:p.Phe498Ser
NR_156186.2:n.1975_1976delinsCT
NM_181833.3:c.448-16510_448-16509delinsCT	NP_861971.1:n.448-16510_448-16509delinsCT...