Canonical Allele Identifier: CA411142186

Gene: NF2

Linked Data

• ClinVar Variation Id: 426373
• ClinVar RCV Id: RCV000489141
• dbSNP Id: rs1085307593
• gnomAD v2: 22-30050682-T-C
• gnomAD v4: 22-29654693-T-C
• MyVariant Identifiers: chr22:g.30050682T>C (hg19) ; chr22:g.29654693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654693T>C , CM000684.2:g.29654693T>C	GRCh38
NC_000022.10:g.30050682T>C , CM000684.1:g.30050682T>C	GRCh37
NC_000022.9:g.28380682T>C	NCBI36
NG_009057.1:g.56138T>C , LRG_511:g.56138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.484T>C	ENSP00000354529.6:p.Phe162Leu
ENST00000673312.2:c.484T>C	ENSP00000500186.2:p.Phe162Leu
ENST00000338641.10:c.484T>C MANE Select	ENSP00000344666.5:p.Phe162Leu
ENST00000361166.9:c.37T>C	ENSP00000354529.5:p.Phe13Leu
ENST00000672461.1:c.484T>C	ENSP00000500919.1:p.Phe162Leu
ENST00000672805.1:c.*366T>C	ENSP00000500295.1:n.*366T>C
ENST00000672896.1:c.484T>C	ENSP00000500117.1:p.Phe162Leu
ENST00000673312.1:c.397T>C	ENSP00000500186.1:p.Phe133Leu
ENST00000334961.11:c.235T>C	ENSP00000335652.7:p.Phe79Leu
ENST00000338641.8:c.484T>C	ENSP00000344666.4:p.Phe162Leu
ENST00000353887.8:c.235T>C	ENSP00000340626.4:p.Phe79Leu
ENST00000361166.8:c.484T>C	ENSP00000354529.4:p.Phe162Leu
ENST00000361452.8:c.361T>C	ENSP00000354897.4:p.Phe121Leu
ENST00000361676.8:c.358T>C	ENSP00000355183.4:p.Phe120Leu
ENST00000397789.3:c.484T>C	ENSP00000380891.3:p.Phe162Leu
ENST00000403435.5:c.484T>C	ENSP00000384029.1:p.Phe162Leu
ENST00000403999.7:c.484T>C	ENSP00000384797.3:p.Phe162Leu
ENST00000413209.6:c.447+12408T>C	ENSP00000409921.2:n.447+12408T>C
ENST00000432151.5:c.199-6512T>C	ENSP00000395885.1:n.199-6512T>C
NM_000268.3:c.484T>C , LRG_511t1:c.484T>C	NP_000259.1:p.Phe162Leu
NM_016418.5:c.484T>C , LRG_511t2:c.484T>C	NP_057502.2:p.Phe162Leu
NM_181825.2:c.484T>C	NP_861546.1:p.Phe162Leu
NM_181828.2:c.358T>C	NP_861966.1:p.Phe120Leu
NM_181829.2:c.361T>C	NP_861967.1:p.Phe121Leu
NM_181830.2:c.235T>C	NP_861968.1:p.Phe79Leu
NM_181831.2:c.235T>C	NP_861969.1:p.Phe79Leu
NM_181832.2:c.484T>C	NP_861970.1:p.Phe162Leu
NM_181833.2:c.447+12408T>C	NP_861971.1:n.447+12408T>C
NR_156186.1:n.1043T>C
XM_017028809.2:c.370T>C	XP_016884298.1:p.Phe124Leu
XM_017028810.1:c.370T>C	XP_016884299.1:p.Phe124Leu
NM_000268.4:c.484T>C MANE Select	NP_000259.1:p.Phe162Leu
NM_181825.3:c.484T>C	NP_861546.1:p.Phe162Leu
NM_181828.3:c.358T>C	NP_861966.1:p.Phe120Leu
NM_181829.3:c.361T>C	NP_861967.1:p.Phe121Leu
NM_181830.3:c.235T>C	NP_861968.1:p.Phe79Leu
NM_181831.3:c.235T>C	NP_861969.1:p.Phe79Leu
NM_181832.3:c.484T>C	NP_861970.1:p.Phe162Leu
NR_156186.2:n.966T>C
NM_181833.3:c.447+12408T>C	NP_861971.1:n.447+12408T>C