Canonical Allele Identifier: CA514189066

Gene: NF2

Linked Data

• ClinVar Variation Id: 1670716
• ClinVar RCV Id: RCV002204007
• dbSNP Id: rs2147108821
• MyVariant Identifiers: chr22:g.30074289T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678300T>G , CM000684.2:g.29678300T>G	GRCh38
NC_000022.10:g.30074289T>G , CM000684.1:g.30074289T>G	GRCh37
NC_000022.9:g.28404289T>G	NCBI36
NG_009057.1:g.79745T>G , LRG_511:g.79745T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1416T>G	ENSP00000354529.6:p.Leu472=
ENST00000673312.2:c.*1045T>G	ENSP00000500186.2:n.*1045T>G
ENST00000338641.10:c.1551T>G MANE Select	ENSP00000344666.5:p.Leu517=
ENST00000361166.9:c.969T>G	ENSP00000354529.5:p.Leu323=
ENST00000672461.1:c.1551T>G	ENSP00000500919.1:p.Leu517=
ENST00000672805.1:c.*1433T>G	ENSP00000500295.1:n.*1433T>G
ENST00000672896.1:c.1551T>G	ENSP00000500117.1:p.Leu517=
ENST00000673312.1:c.1570T>G	ENSP00000500186.1:n.1570T>G
ENST00000334961.11:c.1302T>G	ENSP00000335652.7:p.Leu434=
ENST00000338641.8:c.1551T>G	ENSP00000344666.4:p.Leu517=
ENST00000353887.8:c.1302T>G	ENSP00000340626.4:p.Leu434=
ENST00000361166.8:c.1551T>G	ENSP00000354529.4:p.Leu517=
ENST00000361452.8:c.1428T>G	ENSP00000354897.4:p.Leu476=
ENST00000361676.8:c.1425T>G	ENSP00000355183.4:p.Leu475=
ENST00000397789.3:c.1551T>G	ENSP00000380891.3:p.Leu517=
ENST00000403435.5:c.1464T>G	ENSP00000384029.1:p.Leu488=
ENST00000403999.7:c.1551T>G	ENSP00000384797.3:p.Leu517=
ENST00000413209.6:c.448-16452T>G	ENSP00000409921.2:n.448-16452T>G
ENST00000432151.5:c.*70T>G	ENSP00000395885.1:n.*70T>G
NM_000268.3:c.1551T>G , LRG_511t1:c.1551T>G	NP_000259.1:p.Leu517=
NM_016418.5:c.1551T>G , LRG_511t2:c.1551T>G	NP_057502.2:p.Leu517=
NM_181825.2:c.1551T>G	NP_861546.1:p.Leu517=
NM_181828.2:c.1425T>G	NP_861966.1:p.Leu475=
NM_181829.2:c.1428T>G	NP_861967.1:p.Leu476=
NM_181830.2:c.1302T>G	NP_861968.1:p.Leu434=
NM_181831.2:c.1302T>G	NP_861969.1:p.Leu434=
NM_181832.2:c.1551T>G	NP_861970.1:p.Leu517=
NM_181833.2:c.448-16452T>G	NP_861971.1:n.448-16452T>G
NR_156186.1:n.2110T>G
XM_017028809.2:c.1437T>G	XP_016884298.1:p.Leu479=
XM_017028810.1:c.1437T>G	XP_016884299.1:p.Leu479=
NM_000268.4:c.1551T>G MANE Select	NP_000259.1:p.Leu517=
NM_181825.3:c.1551T>G	NP_861546.1:p.Leu517=
NM_181828.3:c.1425T>G	NP_861966.1:p.Leu475=
NM_181829.3:c.1428T>G	NP_861967.1:p.Leu476=
NM_181830.3:c.1302T>G	NP_861968.1:p.Leu434=
NM_181831.3:c.1302T>G	NP_861969.1:p.Leu434=
NM_181832.3:c.1551T>G	NP_861970.1:p.Leu517=
NR_156186.2:n.2033T>G
NM_181833.3:c.448-16452T>G	NP_861971.1:n.448-16452T>G