Canonical Allele Identifier: CA2738108947

Gene: NF2

Linked Data

• dbSNP Id: rs2147093120

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674896_29674897dup , CM000684.2:g.29674896_29674897dup	GRCh38
NC_000022.10:g.30070885_30070886dup , CM000684.1:g.30070885_30070886dup	GRCh37
NC_000022.9:g.28400885_28400886dup	NCBI36
NG_009057.1:g.76341_76342dup , LRG_511:g.76341_76342dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1266_1267dup	ENSP00000354529.6:p.Ala423GlufsTer18
ENST00000673312.2:c.*895_*896dup	ENSP00000500186.2:n.*895_*896dup
ENST00000338641.10:c.1401_1402dup MANE Select	ENSP00000344666.5:p.Ala468GlufsTer18
ENST00000361166.9:c.819_820dup	ENSP00000354529.5:p.Ala274GlufsTer18
ENST00000672461.1:c.1401_1402dup	ENSP00000500919.1:p.Ala468GlufsTer18
ENST00000672805.1:c.*1283_*1284dup	ENSP00000500295.1:n.*1283_*1284dup
ENST00000672896.1:c.1401_1402dup	ENSP00000500117.1:p.Ala468GlufsTer18
ENST00000673312.1:c.1420_1421dup	ENSP00000500186.1:n.1420_1421dup
ENST00000334961.11:c.1152_1153dup	ENSP00000335652.7:p.Ala385GlufsTer18
ENST00000338641.8:c.1401_1402dup	ENSP00000344666.4:p.Ala468GlufsTer18
ENST00000353887.8:c.1152_1153dup	ENSP00000340626.4:p.Ala385GlufsTer18
ENST00000361166.8:c.1401_1402dup	ENSP00000354529.4:p.Ala468GlufsTer18
ENST00000361452.8:c.1278_1279dup	ENSP00000354897.4:p.Ala427GlufsTer18
ENST00000361676.8:c.1275_1276dup	ENSP00000355183.4:p.Ala426GlufsTer18
ENST00000397789.3:c.1401_1402dup	ENSP00000380891.3:p.Ala468GlufsTer18
ENST00000403435.5:c.1314_1315dup	ENSP00000384029.1:p.Ala439GlufsTer18
ENST00000403999.7:c.1401_1402dup	ENSP00000384797.3:p.Ala468GlufsTer18
ENST00000413209.6:c.448-19856_448-19855dup	ENSP00000409921.2:n.448-19856_448-19855dup
ENST00000432151.5:c.583_584dup	ENSP00000395885.1:p.Ser195ArgfsTer?
NM_000268.3:c.1401_1402dup , LRG_511t1:c.1401_1402dup	NP_000259.1:p.Ala468GlufsTer18
NM_016418.5:c.1401_1402dup , LRG_511t2:c.1401_1402dup	NP_057502.2:p.Ala468GlufsTer18
NM_181825.2:c.1401_1402dup	NP_861546.1:p.Ala468GlufsTer18
NM_181828.2:c.1275_1276dup	NP_861966.1:p.Ala426GlufsTer18
NM_181829.2:c.1278_1279dup	NP_861967.1:p.Ala427GlufsTer18
NM_181830.2:c.1152_1153dup	NP_861968.1:p.Ala385GlufsTer18
NM_181831.2:c.1152_1153dup	NP_861969.1:p.Ala385GlufsTer18
NM_181832.2:c.1401_1402dup	NP_861970.1:p.Ala468GlufsTer18
NM_181833.2:c.448-19856_448-19855dup	NP_861971.1:n.448-19856_448-19855dup
NR_156186.1:n.1960_1961dup
XM_017028809.2:c.1287_1288dup	XP_016884298.1:p.Ala430GlufsTer18
XM_017028810.1:c.1287_1288dup	XP_016884299.1:p.Ala430GlufsTer18
NM_000268.4:c.1401_1402dup MANE Select	NP_000259.1:p.Ala468GlufsTer18
NM_181825.3:c.1401_1402dup	NP_861546.1:p.Ala468GlufsTer18
NM_181828.3:c.1275_1276dup	NP_861966.1:p.Ala426GlufsTer18
NM_181829.3:c.1278_1279dup	NP_861967.1:p.Ala427GlufsTer18
NM_181830.3:c.1152_1153dup	NP_861968.1:p.Ala385GlufsTer18
NM_181831.3:c.1152_1153dup	NP_861969.1:p.Ala385GlufsTer18
NM_181832.3:c.1401_1402dup	NP_861970.1:p.Ala468GlufsTer18
NR_156186.2:n.1883_1884dup
NM_181833.3:c.448-19856_448-19855dup	NP_861971.1:n.448-19856_448-19855dup