Canonical Allele Identifier: CA411149184

Gene: NF2

Linked Data

• ClinVar Variation Id: 3231076
• ClinVar RCV Id: RCV004523190
• MyVariant Identifiers: chr22:g.30070916A>G (hg19) ; chr22:g.29674927A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674927A>G , CM000684.2:g.29674927A>G	GRCh38
NC_000022.10:g.30070916A>G , CM000684.1:g.30070916A>G	GRCh37
NC_000022.9:g.28400916A>G	NCBI36
NG_009057.1:g.76372A>G , LRG_511:g.76372A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1297A>G	ENSP00000354529.6:p.Lys433Glu
ENST00000673312.2:c.*926A>G	ENSP00000500186.2:n.*926A>G
ENST00000338641.10:c.1432A>G MANE Select	ENSP00000344666.5:p.Lys478Glu
ENST00000361166.9:c.850A>G	ENSP00000354529.5:p.Lys284Glu
ENST00000672461.1:c.1432A>G	ENSP00000500919.1:p.Lys478Glu
ENST00000672805.1:c.*1314A>G	ENSP00000500295.1:n.*1314A>G
ENST00000672896.1:c.1432A>G	ENSP00000500117.1:p.Lys478Glu
ENST00000673312.1:c.1451A>G	ENSP00000500186.1:n.1451A>G
ENST00000334961.11:c.1183A>G	ENSP00000335652.7:p.Lys395Glu
ENST00000338641.8:c.1432A>G	ENSP00000344666.4:p.Lys478Glu
ENST00000353887.8:c.1183A>G	ENSP00000340626.4:p.Lys395Glu
ENST00000361166.8:c.1432A>G	ENSP00000354529.4:p.Lys478Glu
ENST00000361452.8:c.1309A>G	ENSP00000354897.4:p.Lys437Glu
ENST00000361676.8:c.1306A>G	ENSP00000355183.4:p.Lys436Glu
ENST00000397789.3:c.1432A>G	ENSP00000380891.3:p.Lys478Glu
ENST00000403435.5:c.1345A>G	ENSP00000384029.1:p.Lys449Glu
ENST00000403999.7:c.1432A>G	ENSP00000384797.3:p.Lys478Glu
ENST00000413209.6:c.448-19825A>G	ENSP00000409921.2:n.448-19825A>G
ENST00000432151.5:c.614A>G	ENSP00000395885.1:p.Gln205Arg
NM_000268.3:c.1432A>G , LRG_511t1:c.1432A>G	NP_000259.1:p.Lys478Glu
NM_016418.5:c.1432A>G , LRG_511t2:c.1432A>G	NP_057502.2:p.Lys478Glu
NM_181825.2:c.1432A>G	NP_861546.1:p.Lys478Glu
NM_181828.2:c.1306A>G	NP_861966.1:p.Lys436Glu
NM_181829.2:c.1309A>G	NP_861967.1:p.Lys437Glu
NM_181830.2:c.1183A>G	NP_861968.1:p.Lys395Glu
NM_181831.2:c.1183A>G	NP_861969.1:p.Lys395Glu
NM_181832.2:c.1432A>G	NP_861970.1:p.Lys478Glu
NM_181833.2:c.448-19825A>G	NP_861971.1:n.448-19825A>G
NR_156186.1:n.1991A>G
XM_017028809.2:c.1318A>G	XP_016884298.1:p.Lys440Glu
XM_017028810.1:c.1318A>G	XP_016884299.1:p.Lys440Glu
NM_000268.4:c.1432A>G MANE Select	NP_000259.1:p.Lys478Glu
NM_181825.3:c.1432A>G	NP_861546.1:p.Lys478Glu
NM_181828.3:c.1306A>G	NP_861966.1:p.Lys436Glu
NM_181829.3:c.1309A>G	NP_861967.1:p.Lys437Glu
NM_181830.3:c.1183A>G	NP_861968.1:p.Lys395Glu
NM_181831.3:c.1183A>G	NP_861969.1:p.Lys395Glu
NM_181832.3:c.1432A>G	NP_861970.1:p.Lys478Glu
NR_156186.2:n.1914A>G
NM_181833.3:c.448-19825A>G	NP_861971.1:n.448-19825A>G