Canonical Allele Identifier: CA514187668

Gene: NF2

Linked Data

• ClinVar Variation Id: 1128383
• ClinVar RCV Id: RCV001461125
• dbSNP Id: rs2147092112
• gnomAD v4: 22-29674848-A-G
• MyVariant Identifiers: chr22:g.30070837A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674848A>G , CM000684.2:g.29674848A>G	GRCh38
NC_000022.10:g.30070837A>G , CM000684.1:g.30070837A>G	GRCh37
NC_000022.9:g.28400837A>G	NCBI36
NG_009057.1:g.76293A>G , LRG_511:g.76293A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1218A>G	ENSP00000354529.6:p.Ala406=
ENST00000673312.2:c.*847A>G	ENSP00000500186.2:n.*847A>G
ENST00000338641.10:c.1353A>G MANE Select	ENSP00000344666.5:p.Ala451=
ENST00000361166.9:c.771A>G	ENSP00000354529.5:p.Ala257=
ENST00000672461.1:c.1353A>G	ENSP00000500919.1:p.Ala451=
ENST00000672805.1:c.*1235A>G	ENSP00000500295.1:n.*1235A>G
ENST00000672896.1:c.1353A>G	ENSP00000500117.1:p.Ala451=
ENST00000673312.1:c.1372A>G	ENSP00000500186.1:n.1372A>G
ENST00000334961.11:c.1104A>G	ENSP00000335652.7:p.Ala368=
ENST00000338641.8:c.1353A>G	ENSP00000344666.4:p.Ala451=
ENST00000353887.8:c.1104A>G	ENSP00000340626.4:p.Ala368=
ENST00000361166.8:c.1353A>G	ENSP00000354529.4:p.Ala451=
ENST00000361452.8:c.1230A>G	ENSP00000354897.4:p.Ala410=
ENST00000361676.8:c.1227A>G	ENSP00000355183.4:p.Ala409=
ENST00000397789.3:c.1353A>G	ENSP00000380891.3:p.Ala451=
ENST00000403435.5:c.1266A>G	ENSP00000384029.1:p.Ala422=
ENST00000403999.7:c.1353A>G	ENSP00000384797.3:p.Ala451=
ENST00000413209.6:c.448-19904A>G	ENSP00000409921.2:n.448-19904A>G
ENST00000432151.5:c.535A>G	ENSP00000395885.1:p.Arg179Gly
NM_000268.3:c.1353A>G , LRG_511t1:c.1353A>G	NP_000259.1:p.Ala451=
NM_016418.5:c.1353A>G , LRG_511t2:c.1353A>G	NP_057502.2:p.Ala451=
NM_181825.2:c.1353A>G	NP_861546.1:p.Ala451=
NM_181828.2:c.1227A>G	NP_861966.1:p.Ala409=
NM_181829.2:c.1230A>G	NP_861967.1:p.Ala410=
NM_181830.2:c.1104A>G	NP_861968.1:p.Ala368=
NM_181831.2:c.1104A>G	NP_861969.1:p.Ala368=
NM_181832.2:c.1353A>G	NP_861970.1:p.Ala451=
NM_181833.2:c.448-19904A>G	NP_861971.1:n.448-19904A>G
NR_156186.1:n.1912A>G
XM_017028809.2:c.1239A>G	XP_016884298.1:p.Ala413=
XM_017028810.1:c.1239A>G	XP_016884299.1:p.Ala413=
NM_000268.4:c.1353A>G MANE Select	NP_000259.1:p.Ala451=
NM_181825.3:c.1353A>G	NP_861546.1:p.Ala451=
NM_181828.3:c.1227A>G	NP_861966.1:p.Ala409=
NM_181829.3:c.1230A>G	NP_861967.1:p.Ala410=
NM_181830.3:c.1104A>G	NP_861968.1:p.Ala368=
NM_181831.3:c.1104A>G	NP_861969.1:p.Ala368=
NM_181832.3:c.1353A>G	NP_861970.1:p.Ala451=
NR_156186.2:n.1835A>G
NM_181833.3:c.448-19904A>G	NP_861971.1:n.448-19904A>G