Canonical Allele Identifier: CA915951371

Gene: NF2

Linked Data

• ClinVar Variation Id: 654267
• ClinVar RCV Id: RCV000810194
• dbSNP Id: rs1601613230

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655502_29655645del , CM000684.2:g.29655502_29655645del	GRCh38
NC_000022.10:g.30051491_30051634del , CM000684.1:g.30051491_30051634del	GRCh37
NC_000022.9:g.28381491_28381634del	NCBI36
NG_009057.1:g.56947_57090del , LRG_511:g.56947_57090del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.517-92_568del
ENST00000673312.2:c.*11-92_*62del
ENST00000338641.10:c.517-92_568del
ENST00000361166.9:c.70-92_121del
ENST00000672461.1:c.517-92_568del
ENST00000672805.1:c.*399-92_*450del
ENST00000672896.1:c.517-92_568del
ENST00000673312.1:c.536-92_587del
ENST00000334961.11:c.268-92_319del
ENST00000338641.8:c.517-92_568del
ENST00000353887.8:c.268-92_319del
ENST00000361166.8:c.517-92_568del
ENST00000361452.8:c.394-92_445del
ENST00000361676.8:c.391-92_442del
ENST00000397789.3:c.517-92_568del
ENST00000403435.5:c.517-92_568del
ENST00000403999.7:c.517-92_568del
ENST00000413209.6:c.447+13217_447+13360del	ENSP00000409921.2:n.447+13217_447+13360del
ENST00000432151.5:c.199-5703_199-5560del	ENSP00000395885.1:n.199-5703_199-5560del
NM_000268.3:c.517-92_568del , LRG_511t1:c.517-92_568del
NM_016418.5:c.517-92_568del , LRG_511t2:c.517-92_568del
NM_181825.2:c.517-92_568del
NM_181828.2:c.391-92_442del
NM_181829.2:c.394-92_445del
NM_181830.2:c.268-92_319del
NM_181831.2:c.268-92_319del
NM_181832.2:c.517-92_568del
NM_181833.2:c.447+13217_447+13360del	NP_861971.1:n.447+13217_447+13360del
NR_156186.1:n.1076-92_1127del
XM_017028809.2:c.403-92_454del
XM_017028810.1:c.403-92_454del
NM_000268.4:c.517-92_568del
NM_181825.3:c.517-92_568del
NM_181828.3:c.391-92_442del
NM_181829.3:c.394-92_445del
NM_181830.3:c.268-92_319del
NM_181831.3:c.268-92_319del
NM_181832.3:c.517-92_568del
NR_156186.2:n.999-92_1050del
NM_181833.3:c.447+13217_447+13360del	NP_861971.1:n.447+13217_447+13360del