Canonical Allele Identifier: CA411142128

Gene: NF2

Linked Data

• ClinVar Variation Id: 1368584
• ClinVar RCV Id: RCV001867567
• dbSNP Id: rs2146966434
• MyVariant Identifiers: chr22:g.30050656A>G (hg19) ; chr22:g.29654667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654667A>G , CM000684.2:g.29654667A>G	GRCh38
NC_000022.10:g.30050656A>G , CM000684.1:g.30050656A>G	GRCh37
NC_000022.9:g.28380656A>G	NCBI36
NG_009057.1:g.56112A>G , LRG_511:g.56112A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.458A>G	ENSP00000354529.6:p.Tyr153Cys
ENST00000673312.2:c.458A>G	ENSP00000500186.2:p.Tyr153Cys
ENST00000338641.10:c.458A>G MANE Select	ENSP00000344666.5:p.Tyr153Cys
ENST00000361166.9:c.11A>G	ENSP00000354529.5:p.Tyr4Cys
ENST00000672461.1:c.458A>G	ENSP00000500919.1:p.Tyr153Cys
ENST00000672805.1:c.*340A>G	ENSP00000500295.1:n.*340A>G
ENST00000672896.1:c.458A>G	ENSP00000500117.1:p.Tyr153Cys
ENST00000673312.1:c.371A>G	ENSP00000500186.1:p.Tyr124Cys
ENST00000334961.11:c.209A>G	ENSP00000335652.7:p.Tyr70Cys
ENST00000338641.8:c.458A>G	ENSP00000344666.4:p.Tyr153Cys
ENST00000353887.8:c.209A>G	ENSP00000340626.4:p.Tyr70Cys
ENST00000361166.8:c.458A>G	ENSP00000354529.4:p.Tyr153Cys
ENST00000361452.8:c.335A>G	ENSP00000354897.4:p.Tyr112Cys
ENST00000361676.8:c.332A>G	ENSP00000355183.4:p.Tyr111Cys
ENST00000397789.3:c.458A>G	ENSP00000380891.3:p.Tyr153Cys
ENST00000403435.5:c.458A>G	ENSP00000384029.1:p.Tyr153Cys
ENST00000403999.7:c.458A>G	ENSP00000384797.3:p.Tyr153Cys
ENST00000413209.6:c.447+12382A>G	ENSP00000409921.2:n.447+12382A>G
ENST00000432151.5:c.199-6538A>G	ENSP00000395885.1:n.199-6538A>G
NM_000268.3:c.458A>G , LRG_511t1:c.458A>G	NP_000259.1:p.Tyr153Cys
NM_016418.5:c.458A>G , LRG_511t2:c.458A>G	NP_057502.2:p.Tyr153Cys
NM_181825.2:c.458A>G	NP_861546.1:p.Tyr153Cys
NM_181828.2:c.332A>G	NP_861966.1:p.Tyr111Cys
NM_181829.2:c.335A>G	NP_861967.1:p.Tyr112Cys
NM_181830.2:c.209A>G	NP_861968.1:p.Tyr70Cys
NM_181831.2:c.209A>G	NP_861969.1:p.Tyr70Cys
NM_181832.2:c.458A>G	NP_861970.1:p.Tyr153Cys
NM_181833.2:c.447+12382A>G	NP_861971.1:n.447+12382A>G
NR_156186.1:n.1017A>G
XM_017028809.2:c.344A>G	XP_016884298.1:p.Tyr115Cys
XM_017028810.1:c.344A>G	XP_016884299.1:p.Tyr115Cys
NM_000268.4:c.458A>G MANE Select	NP_000259.1:p.Tyr153Cys
NM_181825.3:c.458A>G	NP_861546.1:p.Tyr153Cys
NM_181828.3:c.332A>G	NP_861966.1:p.Tyr111Cys
NM_181829.3:c.335A>G	NP_861967.1:p.Tyr112Cys
NM_181830.3:c.209A>G	NP_861968.1:p.Tyr70Cys
NM_181831.3:c.209A>G	NP_861969.1:p.Tyr70Cys
NM_181832.3:c.458A>G	NP_861970.1:p.Tyr153Cys
NR_156186.2:n.940A>G
NM_181833.3:c.447+12382A>G	NP_861971.1:n.447+12382A>G