Canonical Allele Identifier: CA514190644

Gene: NF2

Linked Data

• ClinVar Variation Id: 1778489
• ClinVar RCV Id: RCV002398828 ; RCV003097149
• MyVariant Identifiers: chr22:g.30077560T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29681571T>C , CM000684.2:g.29681571T>C	GRCh38
NC_000022.10:g.30077560T>C , CM000684.1:g.30077560T>C	GRCh37
NC_000022.9:g.28407560T>C	NCBI36
NG_009057.1:g.83016T>C , LRG_511:g.83016T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1572T>C	ENSP00000354529.6:p.Gly524=
ENST00000673312.2:c.*1201T>C	ENSP00000500186.2:n.*1201T>C
ENST00000338641.10:c.1707T>C MANE Select	ENSP00000344666.5:p.Gly569=
ENST00000361166.9:c.1125T>C	ENSP00000354529.5:p.Gly375=
ENST00000672461.1:c.1707T>C	ENSP00000500919.1:p.Gly569=
ENST00000672805.1:c.*1589T>C	ENSP00000500295.1:n.*1589T>C
ENST00000672896.1:c.1707T>C	ENSP00000500117.1:p.Gly569=
ENST00000673312.1:c.1726T>C	ENSP00000500186.1:n.1726T>C
ENST00000334961.11:c.1458T>C	ENSP00000335652.7:p.Gly486=
ENST00000338641.8:c.1707T>C	ENSP00000344666.4:p.Gly569=
ENST00000353887.8:c.1458T>C	ENSP00000340626.4:p.Gly486=
ENST00000361166.8:c.1707T>C	ENSP00000354529.4:p.Gly569=
ENST00000361452.8:c.1584T>C	ENSP00000354897.4:p.Gly528=
ENST00000361676.8:c.1581T>C	ENSP00000355183.4:p.Gly527=
ENST00000397789.3:c.1707T>C	ENSP00000380891.3:p.Gly569=
ENST00000403435.5:c.1620T>C	ENSP00000384029.1:p.Gly540=
ENST00000403999.7:c.1707T>C	ENSP00000384797.3:p.Gly569=
ENST00000413209.6:c.448-13181T>C	ENSP00000409921.2:n.448-13181T>C
ENST00000432151.5:c.*93+3248T>C	ENSP00000395885.1:n.*93+3248T>C
NM_000268.3:c.1707T>C , LRG_511t1:c.1707T>C	NP_000259.1:p.Gly569=
NM_016418.5:c.1707T>C , LRG_511t2:c.1707T>C	NP_057502.2:p.Gly569=
NM_181825.2:c.1707T>C	NP_861546.1:p.Gly569=
NM_181828.2:c.1581T>C	NP_861966.1:p.Gly527=
NM_181829.2:c.1584T>C	NP_861967.1:p.Gly528=
NM_181830.2:c.1458T>C	NP_861968.1:p.Gly486=
NM_181831.2:c.1458T>C	NP_861969.1:p.Gly486=
NM_181832.2:c.1707T>C	NP_861970.1:p.Gly569=
NM_181833.2:c.448-13181T>C	NP_861971.1:n.448-13181T>C
NR_156186.1:n.2266T>C
XM_017028809.2:c.1593T>C	XP_016884298.1:p.Gly531=
XM_017028810.1:c.1593T>C	XP_016884299.1:p.Gly531=
NM_000268.4:c.1707T>C MANE Select	NP_000259.1:p.Gly569=
NM_181825.3:c.1707T>C	NP_861546.1:p.Gly569=
NM_181828.3:c.1581T>C	NP_861966.1:p.Gly527=
NM_181829.3:c.1584T>C	NP_861967.1:p.Gly528=
NM_181830.3:c.1458T>C	NP_861968.1:p.Gly486=
NM_181831.3:c.1458T>C	NP_861969.1:p.Gly486=
NM_181832.3:c.1707T>C	NP_861970.1:p.Gly569=
NR_156186.2:n.2189T>C
NM_181833.3:c.448-13181T>C	NP_861971.1:n.448-13181T>C