Canonical Allele Identifier: CA411145572

Gene: NF2

Linked Data

• ClinVar Variation Id: 1721051
• ClinVar RCV Id: RCV002294771
• MyVariant Identifiers: chr22:g.30064331C>G (hg19) ; chr22:g.29668342C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29668342C>G , CM000684.2:g.29668342C>G	GRCh38
NC_000022.10:g.30064331C>G , CM000684.1:g.30064331C>G	GRCh37
NC_000022.9:g.28394331C>G	NCBI36
NG_009057.1:g.69787C>G , LRG_511:g.69787C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.760C>G	ENSP00000354529.6:p.Leu254Val
ENST00000673312.2:c.*389C>G	ENSP00000500186.2:n.*389C>G
ENST00000338641.10:c.895C>G MANE Select	ENSP00000344666.5:p.Leu299Val
ENST00000361166.9:c.313C>G	ENSP00000354529.5:p.Leu105Val
ENST00000672461.1:c.895C>G	ENSP00000500919.1:p.Leu299Val
ENST00000672805.1:c.*777C>G	ENSP00000500295.1:n.*777C>G
ENST00000672896.1:c.895C>G	ENSP00000500117.1:p.Leu299Val
ENST00000673312.1:c.914C>G	ENSP00000500186.1:n.914C>G
ENST00000334961.11:c.646C>G	ENSP00000335652.7:p.Leu216Val
ENST00000338641.8:c.895C>G	ENSP00000344666.4:p.Leu299Val
ENST00000353887.8:c.646C>G	ENSP00000340626.4:p.Leu216Val
ENST00000361166.8:c.895C>G	ENSP00000354529.4:p.Leu299Val
ENST00000361452.8:c.772C>G	ENSP00000354897.4:p.Leu258Val
ENST00000361676.8:c.769C>G	ENSP00000355183.4:p.Leu257Val
ENST00000397789.3:c.895C>G	ENSP00000380891.3:p.Leu299Val
ENST00000403435.5:c.895C>G	ENSP00000384029.1:p.Leu299Val
ENST00000403999.7:c.895C>G	ENSP00000384797.3:p.Leu299Val
ENST00000413209.6:c.447+26057C>G	ENSP00000409921.2:n.447+26057C>G
ENST00000432151.5:c.418C>G	ENSP00000395885.1:p.Leu140Val
NM_000268.3:c.895C>G , LRG_511t1:c.895C>G	NP_000259.1:p.Leu299Val
NM_016418.5:c.895C>G , LRG_511t2:c.895C>G	NP_057502.2:p.Leu299Val
NM_181825.2:c.895C>G	NP_861546.1:p.Leu299Val
NM_181828.2:c.769C>G	NP_861966.1:p.Leu257Val
NM_181829.2:c.772C>G	NP_861967.1:p.Leu258Val
NM_181830.2:c.646C>G	NP_861968.1:p.Leu216Val
NM_181831.2:c.646C>G	NP_861969.1:p.Leu216Val
NM_181832.2:c.895C>G	NP_861970.1:p.Leu299Val
NM_181833.2:c.447+26057C>G	NP_861971.1:n.447+26057C>G
NR_156186.1:n.1454C>G
XM_017028809.2:c.781C>G	XP_016884298.1:p.Leu261Val
XM_017028810.1:c.781C>G	XP_016884299.1:p.Leu261Val
NM_000268.4:c.895C>G MANE Select	NP_000259.1:p.Leu299Val
NM_181825.3:c.895C>G	NP_861546.1:p.Leu299Val
NM_181828.3:c.769C>G	NP_861966.1:p.Leu257Val
NM_181829.3:c.772C>G	NP_861967.1:p.Leu258Val
NM_181830.3:c.646C>G	NP_861968.1:p.Leu216Val
NM_181831.3:c.646C>G	NP_861969.1:p.Leu216Val
NM_181832.3:c.895C>G	NP_861970.1:p.Leu299Val
NR_156186.2:n.1377C>G
NM_181833.3:c.447+26057C>G	NP_861971.1:n.447+26057C>G