Canonical Allele Identifier: CA036791

Gene: NF2

Linked Data

• ClinVar Variation Id: 1347287
• ClinVar RCV Id: RCV002033071
• dbSNP Id: rs776499914
• ExAC: 22:30067902 A / G
• gnomAD v3: 22-29671913-A-G
• gnomAD v4: 22-29671913-A-G
• MyVariant Identifiers: chr22:g.30067902A>G (hg19) ; chr22:g.29671913A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29671913A>G , CM000684.2:g.29671913A>G	GRCh38
NC_000022.10:g.30067902A>G , CM000684.1:g.30067902A>G	GRCh37
NC_000022.9:g.28397902A>G	NCBI36
NG_009057.1:g.73358A>G , LRG_511:g.73358A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.952A>G	ENSP00000354529.6:p.Met318Val
ENST00000673312.2:c.*581A>G	ENSP00000500186.2:n.*581A>G
ENST00000338641.10:c.1087A>G MANE Select	ENSP00000344666.5:p.Met363Val
ENST00000361166.9:c.505A>G	ENSP00000354529.5:p.Met169Val
ENST00000672461.1:c.1087A>G	ENSP00000500919.1:p.Met363Val
ENST00000672805.1:c.*969A>G	ENSP00000500295.1:n.*969A>G
ENST00000672896.1:c.1087A>G	ENSP00000500117.1:p.Met363Val
ENST00000673312.1:c.1106A>G	ENSP00000500186.1:n.1106A>G
ENST00000334961.11:c.838A>G	ENSP00000335652.7:p.Met280Val
ENST00000338641.8:c.1087A>G	ENSP00000344666.4:p.Met363Val
ENST00000353887.8:c.838A>G	ENSP00000340626.4:p.Met280Val
ENST00000361166.8:c.1087A>G	ENSP00000354529.4:p.Met363Val
ENST00000361452.8:c.964A>G	ENSP00000354897.4:p.Met322Val
ENST00000361676.8:c.961A>G	ENSP00000355183.4:p.Met321Val
ENST00000397789.3:c.1087A>G	ENSP00000380891.3:p.Met363Val
ENST00000403435.5:c.1000A>G	ENSP00000384029.1:p.Met334Val
ENST00000403999.7:c.1087A>G	ENSP00000384797.3:p.Met363Val
ENST00000413209.6:c.448-22839A>G	ENSP00000409921.2:n.448-22839A>G
ENST00000432151.5:c.523-2923A>G	ENSP00000395885.1:n.523-2923A>G
NM_000268.3:c.1087A>G , LRG_511t1:c.1087A>G	NP_000259.1:p.Met363Val
NM_016418.5:c.1087A>G , LRG_511t2:c.1087A>G	NP_057502.2:p.Met363Val
NM_181825.2:c.1087A>G	NP_861546.1:p.Met363Val
NM_181828.2:c.961A>G	NP_861966.1:p.Met321Val
NM_181829.2:c.964A>G	NP_861967.1:p.Met322Val
NM_181830.2:c.838A>G	NP_861968.1:p.Met280Val
NM_181831.2:c.838A>G	NP_861969.1:p.Met280Val
NM_181832.2:c.1087A>G	NP_861970.1:p.Met363Val
NM_181833.2:c.448-22839A>G	NP_861971.1:n.448-22839A>G
NR_156186.1:n.1646A>G
XM_017028809.2:c.973A>G	XP_016884298.1:p.Met325Val
XM_017028810.1:c.973A>G	XP_016884299.1:p.Met325Val
NM_000268.4:c.1087A>G MANE Select	NP_000259.1:p.Met363Val
NM_181825.3:c.1087A>G	NP_861546.1:p.Met363Val
NM_181828.3:c.961A>G	NP_861966.1:p.Met321Val
NM_181829.3:c.964A>G	NP_861967.1:p.Met322Val
NM_181830.3:c.838A>G	NP_861968.1:p.Met280Val
NM_181831.3:c.838A>G	NP_861969.1:p.Met280Val
NM_181832.3:c.1087A>G	NP_861970.1:p.Met363Val
NR_156186.2:n.1569A>G
NM_181833.3:c.448-22839A>G	NP_861971.1:n.448-22839A>G