Canonical Allele Identifier: CA031809

Gene: NF2

Linked Data

• ClinVar Variation Id: 1551068
• ClinVar RCV Id: RCV002192171 ; RCV002391167
• dbSNP Id: rs552115565
• ExAC: 22:30074243 G / A
• gnomAD v2: 22-30074243-G-A
• gnomAD v3: 22-29678254-G-A
• gnomAD v4: 22-29678254-G-A
• MyVariant Identifiers: chr22:g.30074243G>A (hg19) ; chr22:g.29678254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678254G>A , CM000684.2:g.29678254G>A	GRCh38
NC_000022.10:g.30074243G>A , CM000684.1:g.30074243G>A	GRCh37
NC_000022.9:g.28404243G>A	NCBI36
NG_009057.1:g.79699G>A , LRG_511:g.79699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1370G>A	ENSP00000354529.6:p.Gly457Asp
ENST00000673312.2:c.*999G>A	ENSP00000500186.2:n.*999G>A
ENST00000338641.10:c.1505G>A MANE Select	ENSP00000344666.5:p.Gly502Asp
ENST00000361166.9:c.923G>A	ENSP00000354529.5:p.Gly308Asp
ENST00000672461.1:c.1505G>A	ENSP00000500919.1:p.Gly502Asp
ENST00000672805.1:c.*1387G>A	ENSP00000500295.1:n.*1387G>A
ENST00000672896.1:c.1505G>A	ENSP00000500117.1:p.Gly502Asp
ENST00000673312.1:c.1524G>A	ENSP00000500186.1:n.1524G>A
ENST00000334961.11:c.1256G>A	ENSP00000335652.7:p.Gly419Asp
ENST00000338641.8:c.1505G>A	ENSP00000344666.4:p.Gly502Asp
ENST00000353887.8:c.1256G>A	ENSP00000340626.4:p.Gly419Asp
ENST00000361166.8:c.1505G>A	ENSP00000354529.4:p.Gly502Asp
ENST00000361452.8:c.1382G>A	ENSP00000354897.4:p.Gly461Asp
ENST00000361676.8:c.1379G>A	ENSP00000355183.4:p.Gly460Asp
ENST00000397789.3:c.1505G>A	ENSP00000380891.3:p.Gly502Asp
ENST00000403435.5:c.1418G>A	ENSP00000384029.1:p.Gly473Asp
ENST00000403999.7:c.1505G>A	ENSP00000384797.3:p.Gly502Asp
ENST00000413209.6:c.448-16498G>A	ENSP00000409921.2:n.448-16498G>A
ENST00000432151.5:c.*24G>A	ENSP00000395885.1:n.*24G>A
NM_000268.3:c.1505G>A , LRG_511t1:c.1505G>A	NP_000259.1:p.Gly502Asp
NM_016418.5:c.1505G>A , LRG_511t2:c.1505G>A	NP_057502.2:p.Gly502Asp
NM_181825.2:c.1505G>A	NP_861546.1:p.Gly502Asp
NM_181828.2:c.1379G>A	NP_861966.1:p.Gly460Asp
NM_181829.2:c.1382G>A	NP_861967.1:p.Gly461Asp
NM_181830.2:c.1256G>A	NP_861968.1:p.Gly419Asp
NM_181831.2:c.1256G>A	NP_861969.1:p.Gly419Asp
NM_181832.2:c.1505G>A	NP_861970.1:p.Gly502Asp
NM_181833.2:c.448-16498G>A	NP_861971.1:n.448-16498G>A
NR_156186.1:n.2064G>A
XM_017028809.2:c.1391G>A	XP_016884298.1:p.Gly464Asp
XM_017028810.1:c.1391G>A	XP_016884299.1:p.Gly464Asp
NM_000268.4:c.1505G>A MANE Select	NP_000259.1:p.Gly502Asp
NM_181825.3:c.1505G>A	NP_861546.1:p.Gly502Asp
NM_181828.3:c.1379G>A	NP_861966.1:p.Gly460Asp
NM_181829.3:c.1382G>A	NP_861967.1:p.Gly461Asp
NM_181830.3:c.1256G>A	NP_861968.1:p.Gly419Asp
NM_181831.3:c.1256G>A	NP_861969.1:p.Gly419Asp
NM_181832.3:c.1505G>A	NP_861970.1:p.Gly502Asp
NR_156186.2:n.1987G>A
NM_181833.3:c.448-16498G>A	NP_861971.1:n.448-16498G>A