Canonical Allele Identifier: CA514183066
Gene: NF2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.30057194del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29661206del , CM000684.2:g.29661206del GRCh38
NC_000022.10:g.30057195del , CM000684.1:g.30057195del GRCh37
NC_000022.9:g.28387195del NCBI36
NG_009057.1:g.62651del , LRG_511:g.62651del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.675+2942del ENSP00000354529.6:n.675+2942del
ENST00000673312.2:c.*171del ENSP00000500186.2:n.*171del
ENST00000338641.10:c.677del MANE Select ENSP00000344666.5:p.Asn226IlefsTer25
ENST00000361166.9:c.228+2942del ENSP00000354529.5:n.228+2942del
ENST00000672461.1:c.677del ENSP00000500919.1:p.Asn226IlefsTer25
ENST00000672805.1:c.*559del ENSP00000500295.1:n.*559del
ENST00000672896.1:c.677del ENSP00000500117.1:p.Asn226IlefsTer25
ENST00000673312.1:c.696del ENSP00000500186.1:n.696del
ENST00000334961.11:c.428del ENSP00000335652.7:p.Asn143IlefsTer25
ENST00000338641.8:c.677del ENSP00000344666.4:p.Asn226IlefsTer25
ENST00000353887.8:c.428del ENSP00000340626.4:p.Asn143IlefsTer25
ENST00000361166.8:c.677del ENSP00000354529.4:p.Asn226IlefsTer25
ENST00000361452.8:c.554del ENSP00000354897.4:p.Asn185IlefsTer25
ENST00000361676.8:c.551del ENSP00000355183.4:p.Asn184IlefsTer25
ENST00000397789.3:c.677del ENSP00000380891.3:p.Asn226IlefsTer25
ENST00000403435.5:c.677del ENSP00000384029.1:p.Asn226IlefsTer25
ENST00000403999.7:c.677del ENSP00000384797.3:p.Asn226IlefsTer25
ENST00000413209.6:c.447+18921del ENSP00000409921.2:n.447+18921del
ENST00000432151.5:c.200del ENSP00000395885.1:p.Asn67IlefsTer25
NM_000268.3:c.677del , LRG_511t1:c.677del NP_000259.1:p.Asn226IlefsTer25
NM_016418.5:c.677del , LRG_511t2:c.677del NP_057502.2:p.Asn226IlefsTer25
NM_181825.2:c.677del NP_861546.1:p.Asn226IlefsTer25
NM_181828.2:c.551del NP_861966.1:p.Asn184IlefsTer25
NM_181829.2:c.554del NP_861967.1:p.Asn185IlefsTer25
NM_181830.2:c.428del NP_861968.1:p.Asn143IlefsTer25
NM_181831.2:c.428del NP_861969.1:p.Asn143IlefsTer25
NM_181832.2:c.677del NP_861970.1:p.Asn226IlefsTer25
NM_181833.2:c.447+18921del NP_861971.1:n.447+18921del
NR_156186.1:n.1236del
XM_017028809.2:c.563del XP_016884298.1:p.Asn188IlefsTer25
XM_017028810.1:c.563del XP_016884299.1:p.Asn188IlefsTer25
NM_000268.4:c.677del MANE Select NP_000259.1:p.Asn226IlefsTer25
NM_181825.3:c.677del NP_861546.1:p.Asn226IlefsTer25
NM_181828.3:c.551del NP_861966.1:p.Asn184IlefsTer25
NM_181829.3:c.554del NP_861967.1:p.Asn185IlefsTer25
NM_181830.3:c.428del NP_861968.1:p.Asn143IlefsTer25
NM_181831.3:c.428del NP_861969.1:p.Asn143IlefsTer25
NM_181832.3:c.677del NP_861970.1:p.Asn226IlefsTer25
NR_156186.2:n.1159del
NM_181833.3:c.447+18921del NP_861971.1:n.447+18921del