Canonical Allele Identifier: CA411142738

Gene: NF2

Linked Data

• ClinVar Variation Id: 1455255
• ClinVar RCV Id: RCV001942281
• dbSNP Id: rs2146974102
• MyVariant Identifiers: chr22:g.30051667T>G (hg19) ; chr22:g.29655678T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655678T>G , CM000684.2:g.29655678T>G	GRCh38
NC_000022.10:g.30051667T>G , CM000684.1:g.30051667T>G	GRCh37
NC_000022.9:g.28381667T>G	NCBI36
NG_009057.1:g.57123T>G , LRG_511:g.57123T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.599+2T>G	ENSP00000354529.6:n.599+2T>G
ENST00000673312.2:c.*93+2T>G	ENSP00000500186.2:n.*93+2T>G
ENST00000338641.10:c.599+2T>G MANE Select	ENSP00000344666.5:n.599+2T>G
ENST00000361166.9:c.152+2T>G	ENSP00000354529.5:n.152+2T>G
ENST00000672461.1:c.599+2T>G	ENSP00000500919.1:n.599+2T>G
ENST00000672805.1:c.*481+2T>G	ENSP00000500295.1:n.*481+2T>G
ENST00000672896.1:c.599+2T>G	ENSP00000500117.1:n.599+2T>G
ENST00000673312.1:c.618+2T>G	ENSP00000500186.1:n.618+2T>G
ENST00000334961.11:c.350+2T>G	ENSP00000335652.7:n.350+2T>G
ENST00000338641.8:c.599+2T>G	ENSP00000344666.4:n.599+2T>G
ENST00000353887.8:c.350+2T>G	ENSP00000340626.4:n.350+2T>G
ENST00000361166.8:c.599+2T>G	ENSP00000354529.4:n.599+2T>G
ENST00000361452.8:c.476+2T>G	ENSP00000354897.4:n.476+2T>G
ENST00000361676.8:c.473+2T>G	ENSP00000355183.4:n.473+2T>G
ENST00000397789.3:c.599+2T>G	ENSP00000380891.3:n.599+2T>G
ENST00000403435.5:c.599+2T>G	ENSP00000384029.1:n.599+2T>G
ENST00000403999.7:c.599+2T>G	ENSP00000384797.3:n.599+2T>G
ENST00000413209.6:c.447+13393T>G	ENSP00000409921.2:n.447+13393T>G
ENST00000432151.5:c.199-5527T>G	ENSP00000395885.1:n.199-5527T>G
NM_000268.3:c.599+2T>G , LRG_511t1:c.599+2T>G	NP_000259.1:n.599+2T>G
NM_016418.5:c.599+2T>G , LRG_511t2:c.599+2T>G	NP_057502.2:n.599+2T>G
NM_181825.2:c.599+2T>G	NP_861546.1:n.599+2T>G
NM_181828.2:c.473+2T>G	NP_861966.1:n.473+2T>G
NM_181829.2:c.476+2T>G	NP_861967.1:n.476+2T>G
NM_181830.2:c.350+2T>G	NP_861968.1:n.350+2T>G
NM_181831.2:c.350+2T>G	NP_861969.1:n.350+2T>G
NM_181832.2:c.599+2T>G	NP_861970.1:n.599+2T>G
NM_181833.2:c.447+13393T>G	NP_861971.1:n.447+13393T>G
NR_156186.1:n.1158+2T>G
XM_017028809.2:c.485+2T>G	XP_016884298.1:n.485+2T>G
XM_017028810.1:c.485+2T>G	XP_016884299.1:n.485+2T>G
NM_000268.4:c.599+2T>G MANE Select	NP_000259.1:n.599+2T>G
NM_181825.3:c.599+2T>G	NP_861546.1:n.599+2T>G
NM_181828.3:c.473+2T>G	NP_861966.1:n.473+2T>G
NM_181829.3:c.476+2T>G	NP_861967.1:n.476+2T>G
NM_181830.3:c.350+2T>G	NP_861968.1:n.350+2T>G
NM_181831.3:c.350+2T>G	NP_861969.1:n.350+2T>G
NM_181832.3:c.599+2T>G	NP_861970.1:n.599+2T>G
NR_156186.2:n.1081+2T>G
NM_181833.3:c.447+13393T>G	NP_861971.1:n.447+13393T>G