Canonical Allele Identifier: CA411142290

Gene: NF2

Linked Data

• ClinVar Variation Id: 825593
• ClinVar RCV Id: RCV001023815
• dbSNP Id: rs1601613495
• gnomAD v4: 22-29655602-T-A
• MyVariant Identifiers: chr22:g.30051591T>A (hg19) ; chr22:g.29655602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655602T>A , CM000684.2:g.29655602T>A	GRCh38
NC_000022.10:g.30051591T>A , CM000684.1:g.30051591T>A	GRCh37
NC_000022.9:g.28381591T>A	NCBI36
NG_009057.1:g.57047T>A , LRG_511:g.57047T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.525T>A	ENSP00000354529.6:p.Asn175Lys
ENST00000673312.2:c.*19T>A	ENSP00000500186.2:n.*19T>A
ENST00000338641.10:c.525T>A MANE Select	ENSP00000344666.5:p.Asn175Lys
ENST00000361166.9:c.78T>A	ENSP00000354529.5:p.Asn26Lys
ENST00000672461.1:c.525T>A	ENSP00000500919.1:p.Asn175Lys
ENST00000672805.1:c.*407T>A	ENSP00000500295.1:n.*407T>A
ENST00000672896.1:c.525T>A	ENSP00000500117.1:p.Asn175Lys
ENST00000673312.1:c.544T>A	ENSP00000500186.1:n.544T>A
ENST00000334961.11:c.276T>A	ENSP00000335652.7:p.Asn92Lys
ENST00000338641.8:c.525T>A	ENSP00000344666.4:p.Asn175Lys
ENST00000353887.8:c.276T>A	ENSP00000340626.4:p.Asn92Lys
ENST00000361166.8:c.525T>A	ENSP00000354529.4:p.Asn175Lys
ENST00000361452.8:c.402T>A	ENSP00000354897.4:p.Asn134Lys
ENST00000361676.8:c.399T>A	ENSP00000355183.4:p.Asn133Lys
ENST00000397789.3:c.525T>A	ENSP00000380891.3:p.Asn175Lys
ENST00000403435.5:c.525T>A	ENSP00000384029.1:p.Asn175Lys
ENST00000403999.7:c.525T>A	ENSP00000384797.3:p.Asn175Lys
ENST00000413209.6:c.447+13317T>A	ENSP00000409921.2:n.447+13317T>A
ENST00000432151.5:c.199-5603T>A	ENSP00000395885.1:n.199-5603T>A
NM_000268.3:c.525T>A , LRG_511t1:c.525T>A	NP_000259.1:p.Asn175Lys
NM_016418.5:c.525T>A , LRG_511t2:c.525T>A	NP_057502.2:p.Asn175Lys
NM_181825.2:c.525T>A	NP_861546.1:p.Asn175Lys
NM_181828.2:c.399T>A	NP_861966.1:p.Asn133Lys
NM_181829.2:c.402T>A	NP_861967.1:p.Asn134Lys
NM_181830.2:c.276T>A	NP_861968.1:p.Asn92Lys
NM_181831.2:c.276T>A	NP_861969.1:p.Asn92Lys
NM_181832.2:c.525T>A	NP_861970.1:p.Asn175Lys
NM_181833.2:c.447+13317T>A	NP_861971.1:n.447+13317T>A
NR_156186.1:n.1084T>A
XM_017028809.2:c.411T>A	XP_016884298.1:p.Asn137Lys
XM_017028810.1:c.411T>A	XP_016884299.1:p.Asn137Lys
NM_000268.4:c.525T>A MANE Select	NP_000259.1:p.Asn175Lys
NM_181825.3:c.525T>A	NP_861546.1:p.Asn175Lys
NM_181828.3:c.399T>A	NP_861966.1:p.Asn133Lys
NM_181829.3:c.402T>A	NP_861967.1:p.Asn134Lys
NM_181830.3:c.276T>A	NP_861968.1:p.Asn92Lys
NM_181831.3:c.276T>A	NP_861969.1:p.Asn92Lys
NM_181832.3:c.525T>A	NP_861970.1:p.Asn175Lys
NR_156186.2:n.1007T>A
NM_181833.3:c.447+13317T>A	NP_861971.1:n.447+13317T>A