{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2400667209", "communityStandardTitle": [ "NM_000268.4(NF2):c.169C= (p.Arg57=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121434259", "rs": 121434259 } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 29636805, "referenceAllele": "C", "start": 29636804 } ], "hgvs": [ "NC_000022.11:g.29636805C=", "CM000684.2:g.29636805C=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 30032794, "referenceAllele": "C", "start": 30032793 } ], "hgvs": [ "NC_000022.10:g.30032794C=", "CM000684.1:g.30032794C=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 28362794, "referenceAllele": "C", "start": 28362793 } ], "hgvs": [ "NC_000022.9:g.28362794C=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "C", "end": 38250, "referenceAllele": "C", "start": 38249 } ], "hgvs": [ "NG_009057.1:g.38250C=", "LRG_511:g.38250C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001399" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000361166.10:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000354529.6:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS913979" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000673312.2:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000500186.2:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS914446" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000338641.10:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000344666.5:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS747756", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000338641.10:c.169C=" }, "RefSeq": { "hgvs": "NM_000268.4:c.169C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344666.5:p.Arg57=" }, "RefSeq": { "hgvs": "NP_000259.1:p.Arg57=" } } } }, { "coordinates": [ { "allele": "C", "end": 565, "referenceAllele": "C", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000672461.1:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000500919.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773391" }, { "coordinates": [ { "allele": "C", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000672805.1:c.*51C=" ], "proteinEffect": { "hgvs": "ENSP00000500295.1:n.*51C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773495" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000672896.1:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000500117.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773532" }, { "coordinates": [ { "allele": "C", "end": 82, "referenceAllele": "C", "start": 81 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000673312.1:c.82C=" ], "proteinEffect": { "hgvs": "ENSP00000500186.1:p.Arg28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773646" }, { "coordinates": [ { "allele": "C", "end": 386, "endIntronDirection": "-", "endIntronOffset": 5396, "referenceAllele": "C", "start": 386, "startIntronDirection": "-", "startIntronOffset": 5397 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000334961.11:c.115-5397C=" ], "proteinEffect": { "hgvs": "ENSP00000335652.7:n.115-5397C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247392" }, { "coordinates": [ { "allele": "C", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000338641.8:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000344666.4:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247223" }, { "coordinates": [ { "allele": "C", "end": 366, "endIntronDirection": "-", "endIntronOffset": 5396, "referenceAllele": "C", "start": 366, "startIntronDirection": "-", "startIntronOffset": 5397 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000353887.8:c.115-5397C=" ], "proteinEffect": { "hgvs": "ENSP00000340626.4:n.115-5397C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247362" }, { "coordinates": [ { "allele": "C", "end": 169, "referenceAllele": "C", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000361166.8:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000354529.4:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247287" }, { "coordinates": [ { "allele": "C", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000361452.8:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000354897.4:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247179" }, { "coordinates": [ { "allele": "C", "end": 114, "endIntronDirection": "-", "endIntronOffset": 2284, "referenceAllele": "C", "start": 114, "startIntronDirection": "-", "startIntronOffset": 2285 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000361676.8:c.115-2285C=" ], "proteinEffect": { "hgvs": "ENSP00000355183.4:n.115-2285C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247194" }, { "coordinates": [ { "allele": "C", "end": 169, "referenceAllele": "C", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000397789.3:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000380891.3:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247214" }, { "coordinates": [ { "allele": "C", "end": 580, "referenceAllele": "C", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000403435.5:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000384029.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247166" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000403999.7:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000384797.3:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247113" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000413209.6:c.169C=" ], "proteinEffect": { "hgvs": "ENSP00000409921.2:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247276" }, { "coordinates": [ { "allele": "C", "end": 164, "endIntronDirection": "-", "endIntronOffset": 5396, "referenceAllele": "C", "start": 164, "startIntronDirection": "-", "startIntronOffset": 5397 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000432151.5:c.115-5397C=" ], "proteinEffect": { "hgvs": "ENSP00000395885.1:n.115-5397C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS291965" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_000268.3:c.169C=", "LRG_511t1:c.169C=" ], "proteinEffect": { "hgvs": "NP_000259.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006330" }, { "@id": "http://reg.genome.network/allele/PA3088582059", "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_016418.5:c.169C=", "LRG_511t2:c.169C=" ], "proteinEffect": { "hgvs": "NP_057502.2:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS034679" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181825.2:c.169C=" ], "proteinEffect": { "hgvs": "NP_861546.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS043888" }, { "coordinates": [ { "allele": "C", "end": 557, "endIntronDirection": "-", "endIntronOffset": 2284, "referenceAllele": "C", "start": 557, "startIntronDirection": "-", "startIntronOffset": 2285 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181828.2:c.115-2285C=" ], "proteinEffect": { "hgvs": "NP_861966.1:n.115-2285C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS043889" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181829.2:c.169C=" ], "proteinEffect": { "hgvs": "NP_861967.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS043890" }, { "coordinates": [ { "allele": "C", "end": 557, "endIntronDirection": "-", "endIntronOffset": 5396, "referenceAllele": "C", "start": 557, "startIntronDirection": "-", "startIntronOffset": 5397 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181830.2:c.115-5397C=" ], "proteinEffect": { "hgvs": "NP_861968.1:n.115-5397C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS043891" }, { "coordinates": [ { "allele": "C", "end": 557, "endIntronDirection": "-", "endIntronOffset": 5396, "referenceAllele": "C", "start": 557, "startIntronDirection": "-", "startIntronOffset": 5397 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181831.2:c.115-5397C=" ], "proteinEffect": { "hgvs": "NP_861969.1:n.115-5397C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS043892" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181832.2:c.169C=" ], "proteinEffect": { "hgvs": "NP_861970.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS043893" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181833.2:c.169C=" ], "proteinEffect": { "hgvs": "NP_861971.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS043894" }, { "coordinates": [ { "allele": "C", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NR_156186.1:n.728C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531892" }, { "coordinates": [ { "allele": "C", "end": 175, "referenceAllele": "C", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "XM_017028809.2:c.55C=" ], "proteinEffect": { "hgvs": "XP_016884298.1:p.Arg19=" }, "referenceSequence": "http://reg.genome.network/refseq/RS578468" }, { "coordinates": [ { "allele": "C", "end": 171, "referenceAllele": "C", "start": 170 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "XM_017028810.1:c.55C=" ], "proteinEffect": { "hgvs": "XP_016884299.1:p.Arg19=" }, "referenceSequence": "http://reg.genome.network/refseq/RS578469" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_000268.4:c.169C=" ], "proteinEffect": { "hgvs": "NP_000259.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674769", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000338641.10:c.169C=" }, "RefSeq": { "hgvs": "NM_000268.4:c.169C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344666.5:p.Arg57=" }, "RefSeq": { "hgvs": "NP_000259.1:p.Arg57=" } } } }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181825.3:c.169C=" ], "proteinEffect": { "hgvs": "NP_861546.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701021" }, { "coordinates": [ { "allele": "C", "end": 480, "endIntronDirection": "-", "endIntronOffset": 2284, "referenceAllele": "C", "start": 480, "startIntronDirection": "-", "startIntronOffset": 2285 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181828.3:c.115-2285C=" ], "proteinEffect": { "hgvs": "NP_861966.1:n.115-2285C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701022" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181829.3:c.169C=" ], "proteinEffect": { "hgvs": "NP_861967.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701023" }, { "coordinates": [ { "allele": "C", "end": 480, "endIntronDirection": "-", "endIntronOffset": 5396, "referenceAllele": "C", "start": 480, "startIntronDirection": "-", "startIntronOffset": 5397 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181830.3:c.115-5397C=" ], "proteinEffect": { "hgvs": "NP_861968.1:n.115-5397C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701024" }, { "coordinates": [ { "allele": "C", "end": 480, "endIntronDirection": "-", "endIntronOffset": 5396, "referenceAllele": "C", "start": 480, "startIntronDirection": "-", "startIntronOffset": 5397 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181831.3:c.115-5397C=" ], "proteinEffect": { "hgvs": "NP_861969.1:n.115-5397C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701025" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181832.3:c.169C=" ], "proteinEffect": { "hgvs": "NP_861970.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701026" }, { "coordinates": [ { "allele": "C", "end": 651, "referenceAllele": "C", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NR_156186.2:n.651C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS704957" }, { "coordinates": [ { "allele": "C", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181833.3:c.169C=" ], "proteinEffect": { "hgvs": "NP_861971.1:p.Arg57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS729746" } ], "type": "nucleotide" }