Canonical Allele Identifier: CA034466
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 412210
dbSNP Id: rs747871414

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29658203T>C , CM000684.2:g.29658203T>C GRCh38
NC_000022.10:g.30054192T>C , CM000684.1:g.30054192T>C GRCh37
NC_000022.9:g.28384192T>C NCBI36
NG_009057.1:g.59648T>C , LRG_511:g.59648T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.614T>C ENSP00000354529.6:p.Met205Thr
ENST00000673312.2:c.*108T>C ENSP00000500186.2:n.*108T>C
ENST00000338641.10:c.614T>C MANE Select ENSP00000344666.5:p.Met205Thr
ENST00000361166.9:c.167T>C ENSP00000354529.5:p.Met56Thr
ENST00000672461.1:c.614T>C ENSP00000500919.1:p.Met205Thr
ENST00000672805.1:c.*496T>C ENSP00000500295.1:n.*496T>C
ENST00000672896.1:c.614T>C ENSP00000500117.1:p.Met205Thr
ENST00000673312.1:c.633T>C ENSP00000500186.1:n.633T>C
ENST00000334961.11:c.365T>C ENSP00000335652.7:p.Met122Thr
ENST00000338641.8:c.614T>C ENSP00000344666.4:p.Met205Thr
ENST00000353887.8:c.365T>C ENSP00000340626.4:p.Met122Thr
ENST00000361166.8:c.614T>C ENSP00000354529.4:p.Met205Thr
ENST00000361452.8:c.491T>C ENSP00000354897.4:p.Met164Thr
ENST00000361676.8:c.488T>C ENSP00000355183.4:p.Met163Thr
ENST00000397789.3:c.614T>C ENSP00000380891.3:p.Met205Thr
ENST00000403435.5:c.614T>C ENSP00000384029.1:p.Met205Thr
ENST00000403999.7:c.614T>C ENSP00000384797.3:p.Met205Thr
ENST00000413209.6:c.447+15918T>C ENSP00000409921.2:n.447+15918T>C
ENST00000432151.5:c.199-3002T>C ENSP00000395885.1:n.199-3002T>C
NM_000268.3:c.614T>C , LRG_511t1:c.614T>C NP_000259.1:p.Met205Thr
NM_016418.5:c.614T>C , LRG_511t2:c.614T>C NP_057502.2:p.Met205Thr
NM_181825.2:c.614T>C NP_861546.1:p.Met205Thr
NM_181828.2:c.488T>C NP_861966.1:p.Met163Thr
NM_181829.2:c.491T>C NP_861967.1:p.Met164Thr
NM_181830.2:c.365T>C NP_861968.1:p.Met122Thr
NM_181831.2:c.365T>C NP_861969.1:p.Met122Thr
NM_181832.2:c.614T>C NP_861970.1:p.Met205Thr
NM_181833.2:c.447+15918T>C NP_861971.1:n.447+15918T>C
NR_156186.1:n.1173T>C
XM_017028809.2:c.500T>C XP_016884298.1:p.Met167Thr
XM_017028810.1:c.500T>C XP_016884299.1:p.Met167Thr
NM_000268.4:c.614T>C MANE Select NP_000259.1:p.Met205Thr
NM_181825.3:c.614T>C NP_861546.1:p.Met205Thr
NM_181828.3:c.488T>C NP_861966.1:p.Met163Thr
NM_181829.3:c.491T>C NP_861967.1:p.Met164Thr
NM_181830.3:c.365T>C NP_861968.1:p.Met122Thr
NM_181831.3:c.365T>C NP_861969.1:p.Met122Thr
NM_181832.3:c.614T>C NP_861970.1:p.Met205Thr
NR_156186.2:n.1096T>C
NM_181833.3:c.447+15918T>C NP_861971.1:n.447+15918T>C