Canonical Allele Identifier: CA645601020
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 527703
ClinVar RCV Id: RCV000632648
dbSNP Id: rs1555993313
COSMIC: COSM22202

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29655640_29655641del , CM000684.2:g.29655640_29655641del GRCh38
NC_000022.10:g.30051629_30051630del , CM000684.1:g.30051629_30051630del GRCh37
NC_000022.9:g.28381629_28381630del NCBI36
NG_009057.1:g.57085_57086del , LRG_511:g.57085_57086del

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.563_564del ENSP00000354529.6:p.Ile188AsnfsTer14
ENST00000673312.2:c.*57_*58del ENSP00000500186.2:n.*57_*58del
ENST00000338641.10:c.563_564del MANE Select ENSP00000344666.5:p.Ile188AsnfsTer14
ENST00000361166.9:c.116_117del ENSP00000354529.5:p.Ile39AsnfsTer14
ENST00000672461.1:c.563_564del ENSP00000500919.1:p.Ile188AsnfsTer14
ENST00000672805.1:c.*445_*446del ENSP00000500295.1:n.*445_*446del
ENST00000672896.1:c.563_564del ENSP00000500117.1:p.Ile188AsnfsTer14
ENST00000673312.1:c.582_583del ENSP00000500186.1:n.582_583del
ENST00000334961.11:c.314_315del ENSP00000335652.7:p.Ile105AsnfsTer14
ENST00000338641.8:c.563_564del ENSP00000344666.4:p.Ile188AsnfsTer14
ENST00000353887.8:c.314_315del ENSP00000340626.4:p.Ile105AsnfsTer14
ENST00000361166.8:c.563_564del ENSP00000354529.4:p.Ile188AsnfsTer14
ENST00000361452.8:c.440_441del ENSP00000354897.4:p.Ile147AsnfsTer14
ENST00000361676.8:c.437_438del ENSP00000355183.4:p.Ile146AsnfsTer14
ENST00000397789.3:c.563_564del ENSP00000380891.3:p.Ile188AsnfsTer14
ENST00000403435.5:c.563_564del ENSP00000384029.1:p.Ile188AsnfsTer14
ENST00000403999.7:c.563_564del ENSP00000384797.3:p.Ile188AsnfsTer14
ENST00000413209.6:c.447+13355_447+13356del ENSP00000409921.2:n.447+13355_447+13356de...
ENST00000432151.5:c.199-5565_199-5564del ENSP00000395885.1:n.199-5565_199-5564del
NM_000268.3:c.563_564del , LRG_511t1:c.563_564del NP_000259.1:p.Ile188AsnfsTer14
NM_016418.5:c.563_564del , LRG_511t2:c.563_564del NP_057502.2:p.Ile188AsnfsTer14
NM_181825.2:c.563_564del NP_861546.1:p.Ile188AsnfsTer14
NM_181828.2:c.437_438del NP_861966.1:p.Ile146AsnfsTer14
NM_181829.2:c.440_441del NP_861967.1:p.Ile147AsnfsTer14
NM_181830.2:c.314_315del NP_861968.1:p.Ile105AsnfsTer14
NM_181831.2:c.314_315del NP_861969.1:p.Ile105AsnfsTer14
NM_181832.2:c.563_564del NP_861970.1:p.Ile188AsnfsTer14
NM_181833.2:c.447+13355_447+13356del NP_861971.1:n.447+13355_447+13356del
NR_156186.1:n.1122_1123del
XM_017028809.2:c.449_450del XP_016884298.1:p.Ile150AsnfsTer14
XM_017028810.1:c.449_450del XP_016884299.1:p.Ile150AsnfsTer14
NM_000268.4:c.563_564del MANE Select NP_000259.1:p.Ile188AsnfsTer14
NM_181825.3:c.563_564del NP_861546.1:p.Ile188AsnfsTer14
NM_181828.3:c.437_438del NP_861966.1:p.Ile146AsnfsTer14
NM_181829.3:c.440_441del NP_861967.1:p.Ile147AsnfsTer14
NM_181830.3:c.314_315del NP_861968.1:p.Ile105AsnfsTer14
NM_181831.3:c.314_315del NP_861969.1:p.Ile105AsnfsTer14
NM_181832.3:c.563_564del NP_861970.1:p.Ile188AsnfsTer14
NR_156186.2:n.1045_1046del
NM_181833.3:c.447+13355_447+13356del NP_861971.1:n.447+13355_447+13356del