Canonical Allele Identifier: CA034802

Gene: NF2

Linked Data

• ClinVar Variation Id: 826706
• ClinVar RCV Id: RCV001025806
• dbSNP Id: rs770019352
• ExAC: 22:30057209 G / C
• gnomAD v2: 22-30057209-G-C
• gnomAD v4: 22-29661220-G-C
• MyVariant Identifiers: chr22:g.30057209G>C (hg19) ; chr22:g.29661220G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661220G>C , CM000684.2:g.29661220G>C	GRCh38
NC_000022.10:g.30057209G>C , CM000684.1:g.30057209G>C	GRCh37
NC_000022.9:g.28387209G>C	NCBI36
NG_009057.1:g.62665G>C , LRG_511:g.62665G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+2956G>C	ENSP00000354529.6:n.675+2956G>C
ENST00000673312.2:c.*185G>C	ENSP00000500186.2:n.*185G>C
ENST00000338641.10:c.691G>C MANE Select	ENSP00000344666.5:p.Glu231Gln
ENST00000361166.9:c.228+2956G>C	ENSP00000354529.5:n.228+2956G>C
ENST00000672461.1:c.691G>C	ENSP00000500919.1:p.Glu231Gln
ENST00000672805.1:c.*573G>C	ENSP00000500295.1:n.*573G>C
ENST00000672896.1:c.691G>C	ENSP00000500117.1:p.Glu231Gln
ENST00000673312.1:c.710G>C	ENSP00000500186.1:n.710G>C
ENST00000334961.11:c.442G>C	ENSP00000335652.7:p.Glu148Gln
ENST00000338641.8:c.691G>C	ENSP00000344666.4:p.Glu231Gln
ENST00000353887.8:c.442G>C	ENSP00000340626.4:p.Glu148Gln
ENST00000361166.8:c.691G>C	ENSP00000354529.4:p.Glu231Gln
ENST00000361452.8:c.568G>C	ENSP00000354897.4:p.Glu190Gln
ENST00000361676.8:c.565G>C	ENSP00000355183.4:p.Glu189Gln
ENST00000397789.3:c.691G>C	ENSP00000380891.3:p.Glu231Gln
ENST00000403435.5:c.691G>C	ENSP00000384029.1:p.Glu231Gln
ENST00000403999.7:c.691G>C	ENSP00000384797.3:p.Glu231Gln
ENST00000413209.6:c.447+18935G>C	ENSP00000409921.2:n.447+18935G>C
ENST00000432151.5:c.214G>C	ENSP00000395885.1:p.Glu72Gln
NM_000268.3:c.691G>C , LRG_511t1:c.691G>C	NP_000259.1:p.Glu231Gln
NM_016418.5:c.691G>C , LRG_511t2:c.691G>C	NP_057502.2:p.Glu231Gln
NM_181825.2:c.691G>C	NP_861546.1:p.Glu231Gln
NM_181828.2:c.565G>C	NP_861966.1:p.Glu189Gln
NM_181829.2:c.568G>C	NP_861967.1:p.Glu190Gln
NM_181830.2:c.442G>C	NP_861968.1:p.Glu148Gln
NM_181831.2:c.442G>C	NP_861969.1:p.Glu148Gln
NM_181832.2:c.691G>C	NP_861970.1:p.Glu231Gln
NM_181833.2:c.447+18935G>C	NP_861971.1:n.447+18935G>C
NR_156186.1:n.1250G>C
XM_017028809.2:c.577G>C	XP_016884298.1:p.Glu193Gln
XM_017028810.1:c.577G>C	XP_016884299.1:p.Glu193Gln
NM_000268.4:c.691G>C MANE Select	NP_000259.1:p.Glu231Gln
NM_181825.3:c.691G>C	NP_861546.1:p.Glu231Gln
NM_181828.3:c.565G>C	NP_861966.1:p.Glu189Gln
NM_181829.3:c.568G>C	NP_861967.1:p.Glu190Gln
NM_181830.3:c.442G>C	NP_861968.1:p.Glu148Gln
NM_181831.3:c.442G>C	NP_861969.1:p.Glu148Gln
NM_181832.3:c.691G>C	NP_861970.1:p.Glu231Gln
NR_156186.2:n.1173G>C
NM_181833.3:c.447+18935G>C	NP_861971.1:n.447+18935G>C