Canonical Allele Identifier: CA514183087

Gene: NF2

Linked Data

• COSMIC: COSM1685316 ; COSM1685317
• MyVariant Identifiers: chr22:g.30057207del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661218del , CM000684.2:g.29661218del	GRCh38
NC_000022.10:g.30057207del , CM000684.1:g.30057207del	GRCh37
NC_000022.9:g.28387207del	NCBI36
NG_009057.1:g.62663del , LRG_511:g.62663del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+2954del	ENSP00000354529.6:n.675+2954del
ENST00000673312.2:c.*183del	ENSP00000500186.2:n.*183del
ENST00000338641.10:c.689del MANE Select	ENSP00000344666.5:p.Thr230LysfsTer21
ENST00000361166.9:c.228+2954del	ENSP00000354529.5:n.228+2954del
ENST00000672461.1:c.689del	ENSP00000500919.1:p.Thr230LysfsTer21
ENST00000672805.1:c.*571del	ENSP00000500295.1:n.*571del
ENST00000672896.1:c.689del	ENSP00000500117.1:p.Thr230LysfsTer21
ENST00000673312.1:c.708del	ENSP00000500186.1:n.708del
ENST00000334961.11:c.440del	ENSP00000335652.7:p.Thr147LysfsTer21
ENST00000338641.8:c.689del	ENSP00000344666.4:p.Thr230LysfsTer21
ENST00000353887.8:c.440del	ENSP00000340626.4:p.Thr147LysfsTer21
ENST00000361166.8:c.689del	ENSP00000354529.4:p.Thr230LysfsTer21
ENST00000361452.8:c.566del	ENSP00000354897.4:p.Thr189LysfsTer21
ENST00000361676.8:c.563del	ENSP00000355183.4:p.Thr188LysfsTer21
ENST00000397789.3:c.689del	ENSP00000380891.3:p.Thr230LysfsTer21
ENST00000403435.5:c.689del	ENSP00000384029.1:p.Thr230LysfsTer21
ENST00000403999.7:c.689del	ENSP00000384797.3:p.Thr230LysfsTer21
ENST00000413209.6:c.447+18933del	ENSP00000409921.2:n.447+18933del
ENST00000432151.5:c.212del	ENSP00000395885.1:p.Thr71LysfsTer21
NM_000268.3:c.689del , LRG_511t1:c.689del	NP_000259.1:p.Thr230LysfsTer21
NM_016418.5:c.689del , LRG_511t2:c.689del	NP_057502.2:p.Thr230LysfsTer21
NM_181825.2:c.689del	NP_861546.1:p.Thr230LysfsTer21
NM_181828.2:c.563del	NP_861966.1:p.Thr188LysfsTer21
NM_181829.2:c.566del	NP_861967.1:p.Thr189LysfsTer21
NM_181830.2:c.440del	NP_861968.1:p.Thr147LysfsTer21
NM_181831.2:c.440del	NP_861969.1:p.Thr147LysfsTer21
NM_181832.2:c.689del	NP_861970.1:p.Thr230LysfsTer21
NM_181833.2:c.447+18933del	NP_861971.1:n.447+18933del
NR_156186.1:n.1248del
XM_017028809.2:c.575del	XP_016884298.1:p.Thr192LysfsTer21
XM_017028810.1:c.575del	XP_016884299.1:p.Thr192LysfsTer21
NM_000268.4:c.689del MANE Select	NP_000259.1:p.Thr230LysfsTer21
NM_181825.3:c.689del	NP_861546.1:p.Thr230LysfsTer21
NM_181828.3:c.563del	NP_861966.1:p.Thr188LysfsTer21
NM_181829.3:c.566del	NP_861967.1:p.Thr189LysfsTer21
NM_181830.3:c.440del	NP_861968.1:p.Thr147LysfsTer21
NM_181831.3:c.440del	NP_861969.1:p.Thr147LysfsTer21
NM_181832.3:c.689del	NP_861970.1:p.Thr230LysfsTer21
NR_156186.2:n.1171del
NM_181833.3:c.447+18933del	NP_861971.1:n.447+18933del