Canonical Allele Identifier: CA2580099505

Gene: NF2

Linked Data

• ClinVar Variation Id: 1773200
• ClinVar RCV Id: RCV002396774

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678212del , CM000684.2:g.29678212del	GRCh38
NC_000022.10:g.30074201del , CM000684.1:g.30074201del	GRCh37
NC_000022.9:g.28404201del	NCBI36
NG_009057.1:g.79657del , LRG_511:g.79657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1328del	ENSP00000354529.6:p.Pro443GlnfsTer27
ENST00000673312.2:c.*957del	ENSP00000500186.2:n.*957del
ENST00000338641.10:c.1463del MANE Select	ENSP00000344666.5:p.Pro488GlnfsTer27
ENST00000361166.9:c.881del	ENSP00000354529.5:p.Pro294GlnfsTer27
ENST00000672461.1:c.1463del	ENSP00000500919.1:p.Pro488GlnfsTer27
ENST00000672805.1:c.*1345del	ENSP00000500295.1:n.*1345del
ENST00000672896.1:c.1463del	ENSP00000500117.1:p.Pro488GlnfsTer27
ENST00000673312.1:c.1482del	ENSP00000500186.1:n.1482del
ENST00000334961.11:c.1214del	ENSP00000335652.7:p.Pro405GlnfsTer27
ENST00000338641.8:c.1463del	ENSP00000344666.4:p.Pro488GlnfsTer27
ENST00000353887.8:c.1214del	ENSP00000340626.4:p.Pro405GlnfsTer27
ENST00000361166.8:c.1463del	ENSP00000354529.4:p.Pro488GlnfsTer27
ENST00000361452.8:c.1340del	ENSP00000354897.4:p.Pro447GlnfsTer27
ENST00000361676.8:c.1337del	ENSP00000355183.4:p.Pro446GlnfsTer27
ENST00000397789.3:c.1463del	ENSP00000380891.3:p.Pro488GlnfsTer27
ENST00000403435.5:c.1376del	ENSP00000384029.1:p.Pro459GlnfsTer27
ENST00000403999.7:c.1463del	ENSP00000384797.3:p.Pro488GlnfsTer27
ENST00000413209.6:c.448-16540del	ENSP00000409921.2:n.448-16540del
ENST00000432151.5:c.645del	ENSP00000395885.1:p.Ser216AlafsTer?
NM_000268.3:c.1463del , LRG_511t1:c.1463del	NP_000259.1:p.Pro488GlnfsTer27
NM_016418.5:c.1463del , LRG_511t2:c.1463del	NP_057502.2:p.Pro488GlnfsTer27
NM_181825.2:c.1463del	NP_861546.1:p.Pro488GlnfsTer27
NM_181828.2:c.1337del	NP_861966.1:p.Pro446GlnfsTer27
NM_181829.2:c.1340del	NP_861967.1:p.Pro447GlnfsTer27
NM_181830.2:c.1214del	NP_861968.1:p.Pro405GlnfsTer27
NM_181831.2:c.1214del	NP_861969.1:p.Pro405GlnfsTer27
NM_181832.2:c.1463del	NP_861970.1:p.Pro488GlnfsTer27
NM_181833.2:c.448-16540del	NP_861971.1:n.448-16540del
NR_156186.1:n.2022del
XM_017028809.2:c.1349del	XP_016884298.1:p.Pro450GlnfsTer27
XM_017028810.1:c.1349del	XP_016884299.1:p.Pro450GlnfsTer27
NM_000268.4:c.1463del MANE Select	NP_000259.1:p.Pro488GlnfsTer27
NM_181825.3:c.1463del	NP_861546.1:p.Pro488GlnfsTer27
NM_181828.3:c.1337del	NP_861966.1:p.Pro446GlnfsTer27
NM_181829.3:c.1340del	NP_861967.1:p.Pro447GlnfsTer27
NM_181830.3:c.1214del	NP_861968.1:p.Pro405GlnfsTer27
NM_181831.3:c.1214del	NP_861969.1:p.Pro405GlnfsTer27
NM_181832.3:c.1463del	NP_861970.1:p.Pro488GlnfsTer27
NR_156186.2:n.1945del
NM_181833.3:c.448-16540del	NP_861971.1:n.448-16540del