Canonical Allele Identifier: CA2738082505

Gene: NF2

Linked Data

• ClinVar Variation Id: 2920061
• ClinVar RCV Id: RCV003607188
• dbSNP Id: rs2146971724

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655579T>A , CM000684.2:g.29655579T>A	GRCh38
NC_000022.10:g.30051568T>A , CM000684.1:g.30051568T>A	GRCh37
NC_000022.9:g.28381568T>A	NCBI36
NG_009057.1:g.57024T>A , LRG_511:g.57024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.517-15T>A	ENSP00000354529.6:n.517-15T>A
ENST00000673312.2:c.*11-15T>A	ENSP00000500186.2:n.*11-15T>A
ENST00000338641.10:c.517-15T>A MANE Select	ENSP00000344666.5:n.517-15T>A
ENST00000361166.9:c.70-15T>A	ENSP00000354529.5:n.70-15T>A
ENST00000672461.1:c.517-15T>A	ENSP00000500919.1:n.517-15T>A
ENST00000672805.1:c.*399-15T>A	ENSP00000500295.1:n.*399-15T>A
ENST00000672896.1:c.517-15T>A	ENSP00000500117.1:n.517-15T>A
ENST00000673312.1:c.536-15T>A	ENSP00000500186.1:n.536-15T>A
ENST00000334961.11:c.268-15T>A	ENSP00000335652.7:n.268-15T>A
ENST00000338641.8:c.517-15T>A	ENSP00000344666.4:n.517-15T>A
ENST00000353887.8:c.268-15T>A	ENSP00000340626.4:n.268-15T>A
ENST00000361166.8:c.517-15T>A	ENSP00000354529.4:n.517-15T>A
ENST00000361452.8:c.394-15T>A	ENSP00000354897.4:n.394-15T>A
ENST00000361676.8:c.391-15T>A	ENSP00000355183.4:n.391-15T>A
ENST00000397789.3:c.517-15T>A	ENSP00000380891.3:n.517-15T>A
ENST00000403435.5:c.517-15T>A	ENSP00000384029.1:n.517-15T>A
ENST00000403999.7:c.517-15T>A	ENSP00000384797.3:n.517-15T>A
ENST00000413209.6:c.447+13294T>A	ENSP00000409921.2:n.447+13294T>A
ENST00000432151.5:c.199-5626T>A	ENSP00000395885.1:n.199-5626T>A
NM_000268.3:c.517-15T>A , LRG_511t1:c.517-15T>A	NP_000259.1:n.517-15T>A
NM_016418.5:c.517-15T>A , LRG_511t2:c.517-15T>A	NP_057502.2:n.517-15T>A
NM_181825.2:c.517-15T>A	NP_861546.1:n.517-15T>A
NM_181828.2:c.391-15T>A	NP_861966.1:n.391-15T>A
NM_181829.2:c.394-15T>A	NP_861967.1:n.394-15T>A
NM_181830.2:c.268-15T>A	NP_861968.1:n.268-15T>A
NM_181831.2:c.268-15T>A	NP_861969.1:n.268-15T>A
NM_181832.2:c.517-15T>A	NP_861970.1:n.517-15T>A
NM_181833.2:c.447+13294T>A	NP_861971.1:n.447+13294T>A
NR_156186.1:n.1076-15T>A
XM_017028809.2:c.403-15T>A	XP_016884298.1:n.403-15T>A
XM_017028810.1:c.403-15T>A	XP_016884299.1:n.403-15T>A
NM_000268.4:c.517-15T>A MANE Select	NP_000259.1:n.517-15T>A
NM_181825.3:c.517-15T>A	NP_861546.1:n.517-15T>A
NM_181828.3:c.391-15T>A	NP_861966.1:n.391-15T>A
NM_181829.3:c.394-15T>A	NP_861967.1:n.394-15T>A
NM_181830.3:c.268-15T>A	NP_861968.1:n.268-15T>A
NM_181831.3:c.268-15T>A	NP_861969.1:n.268-15T>A
NM_181832.3:c.517-15T>A	NP_861970.1:n.517-15T>A
NR_156186.2:n.999-15T>A
NM_181833.3:c.447+13294T>A	NP_861971.1:n.447+13294T>A