Canonical Allele Identifier: CA2400682551
Community Standard Title: NM_000268.4(NF2):c.1021C= (p.Arg341=)
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29671847C= , CM000684.2:g.29671847C= GRCh38
NC_000022.10:g.30067836C= , CM000684.1:g.30067836C= GRCh37
NC_000022.9:g.28397836C= NCBI36
NG_009057.1:g.73292C= , LRG_511:g.73292C=

Transcript Alleles

HGVS Amino-acid Change
NM_000268.4:c.1021C= MANE Select NP_000259.1:p.Arg341=
ENST00000338641.10:c.1021C= MANE Select ENSP00000344666.5:p.Arg341=
NM_000268.3:c.1021C= , LRG_511t1:c.1021C= NP_000259.1:p.Arg341=
NM_016418.5:c.1021C= , LRG_511t2:c.1021C= NP_057502.2:p.Arg341=
NM_181825.2:c.1021C= NP_861546.1:p.Arg341=
NM_181825.3:c.1021C= NP_861546.1:p.Arg341=
NM_181828.2:c.895C= NP_861966.1:p.Arg299=
NM_181828.3:c.895C= NP_861966.1:p.Arg299=
NM_181829.2:c.898C= NP_861967.1:p.Arg300=
NM_181829.3:c.898C= NP_861967.1:p.Arg300=
NM_181830.2:c.772C= NP_861968.1:p.Arg258=
NM_181830.3:c.772C= NP_861968.1:p.Arg258=
NM_181831.2:c.772C= NP_861969.1:p.Arg258=
NM_181831.3:c.772C= NP_861969.1:p.Arg258=
NM_181832.2:c.1021C= NP_861970.1:p.Arg341=
NM_181832.3:c.1021C= NP_861970.1:p.Arg341=
NM_181833.2:c.448-22905C= NP_861971.1:n.448-22905C=
NM_181833.3:c.448-22905C= NP_861971.1:n.448-22905C=
NR_156186.1:n.1580C=
NR_156186.2:n.1503C=
ENST00000334961.11:c.772C= ENSP00000335652.7:p.Arg258=
ENST00000338641.8:c.1021C= ENSP00000344666.4:p.Arg341=
ENST00000353887.8:c.772C= ENSP00000340626.4:p.Arg258=
ENST00000361166.10:c.886C= ENSP00000354529.6:p.Arg296=
ENST00000361166.8:c.1021C= ENSP00000354529.4:p.Arg341=
ENST00000361166.9:c.439C= ENSP00000354529.5:p.Arg147=
ENST00000361452.8:c.898C= ENSP00000354897.4:p.Arg300=
ENST00000361676.8:c.895C= ENSP00000355183.4:p.Arg299=
ENST00000397789.3:c.1021C= ENSP00000380891.3:p.Arg341=
ENST00000403435.5:c.1000-66C= ENSP00000384029.1:n.1000-66C=
ENST00000403999.7:c.1021C= ENSP00000384797.3:p.Arg341=
ENST00000413209.6:c.448-22905C= ENSP00000409921.2:n.448-22905C=
ENST00000432151.5:c.523-2989C= ENSP00000395885.1:n.523-2989C=
ENST00000672461.1:c.1021C= ENSP00000500919.1:p.Arg341=
ENST00000672805.1:c.*903C= ENSP00000500295.1:n.*903C=
ENST00000672896.1:c.1021C= ENSP00000500117.1:p.Arg341=
ENST00000673312.1:c.1040C= ENSP00000500186.1:n.1040C=
ENST00000673312.2:c.*515C= ENSP00000500186.2:n.*515C=
XM_017028809.2:c.907C= XP_016884298.1:p.Arg303=
XM_017028810.1:c.907C= XP_016884299.1:p.Arg303=