Canonical Allele Identifier: CA323111825

Gene: NF2

Linked Data

• ClinVar Variation Id: 578288
• ClinVar RCV Id: RCV000701250 ; RCV001026080 ; RCV002305530 ; RCV003460968
• dbSNP Id: rs761195572
• gnomAD v2: 22-30057231-C-T
• gnomAD v3: 22-29661242-C-T
• gnomAD v4: 22-29661242-C-T
• COSMIC: COSM144202 ; COSM5909904
• MyVariant Identifiers: chr22:g.30057231C>T (hg19) ; chr22:g.29661242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661242C>T , CM000684.2:g.29661242C>T	GRCh38
NC_000022.10:g.30057231C>T , CM000684.1:g.30057231C>T	GRCh37
NC_000022.9:g.28387231C>T	NCBI36
NG_009057.1:g.62687C>T , LRG_511:g.62687C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+2978C>T	ENSP00000354529.6:n.675+2978C>T
ENST00000673312.2:c.*207C>T	ENSP00000500186.2:n.*207C>T
ENST00000338641.10:c.713C>T MANE Select	ENSP00000344666.5:p.Ala238Val
ENST00000361166.9:c.228+2978C>T	ENSP00000354529.5:n.228+2978C>T
ENST00000672461.1:c.713C>T	ENSP00000500919.1:p.Ala238Val
ENST00000672805.1:c.*595C>T	ENSP00000500295.1:n.*595C>T
ENST00000672896.1:c.713C>T	ENSP00000500117.1:p.Ala238Val
ENST00000673312.1:c.732C>T	ENSP00000500186.1:n.732C>T
ENST00000334961.11:c.464C>T	ENSP00000335652.7:p.Ala155Val
ENST00000338641.8:c.713C>T	ENSP00000344666.4:p.Ala238Val
ENST00000353887.8:c.464C>T	ENSP00000340626.4:p.Ala155Val
ENST00000361166.8:c.713C>T	ENSP00000354529.4:p.Ala238Val
ENST00000361452.8:c.590C>T	ENSP00000354897.4:p.Ala197Val
ENST00000361676.8:c.587C>T	ENSP00000355183.4:p.Ala196Val
ENST00000397789.3:c.713C>T	ENSP00000380891.3:p.Ala238Val
ENST00000403435.5:c.713C>T	ENSP00000384029.1:p.Ala238Val
ENST00000403999.7:c.713C>T	ENSP00000384797.3:p.Ala238Val
ENST00000413209.6:c.447+18957C>T	ENSP00000409921.2:n.447+18957C>T
ENST00000432151.5:c.236C>T	ENSP00000395885.1:p.Ala79Val
NM_000268.3:c.713C>T , LRG_511t1:c.713C>T	NP_000259.1:p.Ala238Val
NM_016418.5:c.713C>T , LRG_511t2:c.713C>T	NP_057502.2:p.Ala238Val
NM_181825.2:c.713C>T	NP_861546.1:p.Ala238Val
NM_181828.2:c.587C>T	NP_861966.1:p.Ala196Val
NM_181829.2:c.590C>T	NP_861967.1:p.Ala197Val
NM_181830.2:c.464C>T	NP_861968.1:p.Ala155Val
NM_181831.2:c.464C>T	NP_861969.1:p.Ala155Val
NM_181832.2:c.713C>T	NP_861970.1:p.Ala238Val
NM_181833.2:c.447+18957C>T	NP_861971.1:n.447+18957C>T
NR_156186.1:n.1272C>T
XM_017028809.2:c.599C>T	XP_016884298.1:p.Ala200Val
XM_017028810.1:c.599C>T	XP_016884299.1:p.Ala200Val
NM_000268.4:c.713C>T MANE Select	NP_000259.1:p.Ala238Val
NM_181825.3:c.713C>T	NP_861546.1:p.Ala238Val
NM_181828.3:c.587C>T	NP_861966.1:p.Ala196Val
NM_181829.3:c.590C>T	NP_861967.1:p.Ala197Val
NM_181830.3:c.464C>T	NP_861968.1:p.Ala155Val
NM_181831.3:c.464C>T	NP_861969.1:p.Ala155Val
NM_181832.3:c.713C>T	NP_861970.1:p.Ala238Val
NR_156186.2:n.1195C>T
NM_181833.3:c.447+18957C>T	NP_861971.1:n.447+18957C>T