Canonical Allele Identifier: CA10650988
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 341072
ClinVar RCV Id: RCV000323107
dbSNP Id: rs763826793

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29673416C>G , CM000684.2:g.29673416C>G GRCh38
NC_000022.10:g.30069405C>G , CM000684.1:g.30069405C>G GRCh37
NC_000022.9:g.28399405C>G NCBI36
NG_009057.1:g.74861C>G , LRG_511:g.74861C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.1270C>G MANE Select ENSP00000344666.5:p.Arg424Gly
ENST00000361166.9:n.688C>G ENSP00000354529.5:p.Arg230Gly
ENST00000672461.1:c.1270C>G ENSP00000500919.1:p.Arg424Gly
ENST00000672805.1:c.*1152C>G ENSP00000500295.1:p.=
ENST00000672896.1:c.1270C>G ENSP00000500117.1:p.Arg424Gly
ENST00000673312.1:n.1289C>G ENSP00000500186.1:p.=
ENST00000334961.11:c.1021C>G ENSP00000335652.7:p.Arg341Gly
ENST00000338641.8:c.1270C>G ENSP00000344666.4:p.Arg424Gly
ENST00000353887.8:c.1021C>G ENSP00000340626.4:p.Arg341Gly
ENST00000361166.8:n.1270C>G ENSP00000354529.4:p.Arg424Gly
ENST00000361452.8:c.1147C>G ENSP00000354897.4:p.Arg383Gly
ENST00000361676.8:n.1144C>G ENSP00000355183.4:p.Arg382Gly
ENST00000397789.3:n.1270C>G ENSP00000380891.3:p.Arg424Gly
ENST00000403435.5:c.1183C>G ENSP00000384029.1:p.Arg395Gly
ENST00000403999.7:c.1270C>G ENSP00000384797.3:p.Arg424Gly
ENST00000413209.6:c.448-21336C>G ENSP00000409921.2:p.=
ENST00000432151.5:c.523-1420C>G ENSP00000395885.1:p.=
NM_000268.3:c.1270C>G , LRG_511t1:c.1270C>G NP_000259.1:p.Arg424Gly
NM_016418.5:c.1270C>G , LRG_511t2:c.1270C>G NP_057502.2:p.Arg424Gly
NM_181825.2:c.1270C>G NP_861546.1:p.Arg424Gly
NM_181828.2:c.1144C>G NP_861966.1:p.Arg382Gly
NM_181829.2:c.1147C>G NP_861967.1:p.Arg383Gly
NM_181830.2:c.1021C>G NP_861968.1:p.Arg341Gly
NM_181831.2:c.1021C>G NP_861969.1:p.Arg341Gly
NM_181832.2:c.1270C>G NP_861970.1:p.Arg424Gly
NM_181833.2:c.448-21336C>G NP_861971.1:p.=
NR_156186.1:n.1829C>G
XM_017028809.2:c.1156C>G XP_016884298.1:p.Arg386Gly
XM_017028810.1:c.1156C>G XP_016884299.1:p.Arg386Gly
NM_000268.4:c.1270C>G MANE Select NP_000259.1:p.Arg424Gly
NM_181825.3:c.1270C>G NP_861546.1:p.Arg424Gly
NM_181828.3:c.1144C>G NP_861966.1:p.Arg382Gly
NM_181829.3:c.1147C>G NP_861967.1:p.Arg383Gly
NM_181830.3:c.1021C>G NP_861968.1:p.Arg341Gly
NM_181831.3:c.1021C>G NP_861969.1:p.Arg341Gly
NM_181832.3:c.1270C>G NP_861970.1:p.Arg424Gly
NR_156186.2:n.1752C>G
NM_181833.3:c.448-21336C>G NP_861971.1:p.=