Canonical Allele Identifier: CA514191636

Gene: NF2

Linked Data

• ClinVar Variation Id: 2148624
• ClinVar RCV Id: RCV003068871
• dbSNP Id: rs2146871037
• MyVariant Identifiers: chr22:g.30035129G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639140G>A , CM000684.2:g.29639140G>A	GRCh38
NC_000022.10:g.30035129G>A , CM000684.1:g.30035129G>A	GRCh37
NC_000022.9:g.28365129G>A	NCBI36
NG_009057.1:g.40585G>A , LRG_511:g.40585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.291G>A	ENSP00000354529.6:p.Leu97=
ENST00000673312.2:c.291G>A	ENSP00000500186.2:p.Leu97=
ENST00000338641.10:c.291G>A MANE Select	ENSP00000344666.5:p.Leu97=
ENST00000672461.1:c.291G>A	ENSP00000500919.1:p.Leu97=
ENST00000672805.1:c.*173G>A	ENSP00000500295.1:n.*173G>A
ENST00000672896.1:c.291G>A	ENSP00000500117.1:p.Leu97=
ENST00000673312.1:c.204G>A	ENSP00000500186.1:p.Leu68=
ENST00000334961.11:c.115-3062G>A	ENSP00000335652.7:n.115-3062G>A
ENST00000338641.8:c.291G>A	ENSP00000344666.4:p.Leu97=
ENST00000353887.8:c.115-3062G>A	ENSP00000340626.4:n.115-3062G>A
ENST00000361166.8:c.291G>A	ENSP00000354529.4:p.Leu97=
ENST00000361452.8:c.240+2264G>A	ENSP00000354897.4:n.240+2264G>A
ENST00000361676.8:c.165G>A	ENSP00000355183.4:p.Leu55=
ENST00000397789.3:c.291G>A	ENSP00000380891.3:p.Leu97=
ENST00000403435.5:c.291G>A	ENSP00000384029.1:p.Leu97=
ENST00000403999.7:c.291G>A	ENSP00000384797.3:p.Leu97=
ENST00000413209.6:c.291G>A	ENSP00000409921.2:p.Leu97=
ENST00000432151.5:c.115-3062G>A	ENSP00000395885.1:n.115-3062G>A
NM_000268.3:c.291G>A , LRG_511t1:c.291G>A	NP_000259.1:p.Leu97=
NM_016418.5:c.291G>A , LRG_511t2:c.291G>A	NP_057502.2:p.Leu97=
NM_181825.2:c.291G>A	NP_861546.1:p.Leu97=
NM_181828.2:c.165G>A	NP_861966.1:p.Leu55=
NM_181829.2:c.240+2264G>A	NP_861967.1:n.240+2264G>A
NM_181830.2:c.115-3062G>A	NP_861968.1:n.115-3062G>A
NM_181831.2:c.115-3062G>A	NP_861969.1:n.115-3062G>A
NM_181832.2:c.291G>A	NP_861970.1:p.Leu97=
NM_181833.2:c.291G>A	NP_861971.1:p.Leu97=
NR_156186.1:n.850G>A
XM_017028809.2:c.177G>A	XP_016884298.1:p.Leu59=
XM_017028810.1:c.177G>A	XP_016884299.1:p.Leu59=
NM_000268.4:c.291G>A MANE Select	NP_000259.1:p.Leu97=
NM_181825.3:c.291G>A	NP_861546.1:p.Leu97=
NM_181828.3:c.165G>A	NP_861966.1:p.Leu55=
NM_181829.3:c.240+2264G>A	NP_861967.1:n.240+2264G>A
NM_181830.3:c.115-3062G>A	NP_861968.1:n.115-3062G>A
NM_181831.3:c.115-3062G>A	NP_861969.1:n.115-3062G>A
NM_181832.3:c.291G>A	NP_861970.1:p.Leu97=
NR_156186.2:n.773G>A
NM_181833.3:c.291G>A	NP_861971.1:p.Leu97=