Canonical Allele Identifier: CA411142273

Gene: NF2

Linked Data

• dbSNP Id: rs2146971884
• MyVariant Identifiers: chr22:g.30051583G>C (hg19) ; chr22:g.29655594G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655594G>C , CM000684.2:g.29655594G>C	GRCh38
NC_000022.10:g.30051583G>C , CM000684.1:g.30051583G>C	GRCh37
NC_000022.9:g.28381583G>C	NCBI36
NG_009057.1:g.57039G>C , LRG_511:g.57039G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.517G>C	ENSP00000354529.6:p.Val173Leu
ENST00000673312.2:c.*11G>C	ENSP00000500186.2:n.*11G>C
ENST00000338641.10:c.517G>C MANE Select	ENSP00000344666.5:p.Val173Leu
ENST00000361166.9:c.70G>C	ENSP00000354529.5:p.Val24Leu
ENST00000672461.1:c.517G>C	ENSP00000500919.1:p.Val173Leu
ENST00000672805.1:c.*399G>C	ENSP00000500295.1:n.*399G>C
ENST00000672896.1:c.517G>C	ENSP00000500117.1:p.Val173Leu
ENST00000673312.1:c.536G>C	ENSP00000500186.1:n.536G>C
ENST00000334961.11:c.268G>C	ENSP00000335652.7:p.Val90Leu
ENST00000338641.8:c.517G>C	ENSP00000344666.4:p.Val173Leu
ENST00000353887.8:c.268G>C	ENSP00000340626.4:p.Val90Leu
ENST00000361166.8:c.517G>C	ENSP00000354529.4:p.Val173Leu
ENST00000361452.8:c.394G>C	ENSP00000354897.4:p.Val132Leu
ENST00000361676.8:c.391G>C	ENSP00000355183.4:p.Val131Leu
ENST00000397789.3:c.517G>C	ENSP00000380891.3:p.Val173Leu
ENST00000403435.5:c.517G>C	ENSP00000384029.1:p.Val173Leu
ENST00000403999.7:c.517G>C	ENSP00000384797.3:p.Val173Leu
ENST00000413209.6:c.447+13309G>C	ENSP00000409921.2:n.447+13309G>C
ENST00000432151.5:c.199-5611G>C	ENSP00000395885.1:n.199-5611G>C
NM_000268.3:c.517G>C , LRG_511t1:c.517G>C	NP_000259.1:p.Val173Leu
NM_016418.5:c.517G>C , LRG_511t2:c.517G>C	NP_057502.2:p.Val173Leu
NM_181825.2:c.517G>C	NP_861546.1:p.Val173Leu
NM_181828.2:c.391G>C	NP_861966.1:p.Val131Leu
NM_181829.2:c.394G>C	NP_861967.1:p.Val132Leu
NM_181830.2:c.268G>C	NP_861968.1:p.Val90Leu
NM_181831.2:c.268G>C	NP_861969.1:p.Val90Leu
NM_181832.2:c.517G>C	NP_861970.1:p.Val173Leu
NM_181833.2:c.447+13309G>C	NP_861971.1:n.447+13309G>C
NR_156186.1:n.1076G>C
XM_017028809.2:c.403G>C	XP_016884298.1:p.Val135Leu
XM_017028810.1:c.403G>C	XP_016884299.1:p.Val135Leu
NM_000268.4:c.517G>C MANE Select	NP_000259.1:p.Val173Leu
NM_181825.3:c.517G>C	NP_861546.1:p.Val173Leu
NM_181828.3:c.391G>C	NP_861966.1:p.Val131Leu
NM_181829.3:c.394G>C	NP_861967.1:p.Val132Leu
NM_181830.3:c.268G>C	NP_861968.1:p.Val90Leu
NM_181831.3:c.268G>C	NP_861969.1:p.Val90Leu
NM_181832.3:c.517G>C	NP_861970.1:p.Val173Leu
NR_156186.2:n.999G>C
NM_181833.3:c.447+13309G>C	NP_861971.1:n.447+13309G>C