{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2017462948", "communityStandardTitle": [ "NM_000834.5(GRIN2B):c.1555C= (p.Arg519=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/774592932", "rs": 774592932 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "G", "end": 13615213, "referenceAllele": "G", "start": 13615212 } ], "hgvs": [ "NC_000012.12:g.13615213G=", "CM000674.2:g.13615213G=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "G", "end": 13768147, "referenceAllele": "G", "start": 13768146 } ], "hgvs": [ "NC_000012.11:g.13768147G=", "CM000674.1:g.13768147G=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "G", "end": 13659414, "referenceAllele": "G", "start": 13659413 } ], "hgvs": [ "NC_000012.10:g.13659414G=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "C", "end": 369876, "referenceAllele": "C", "start": 369875 } ], "hgvs": [ "NG_031854.1:g.369876C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS004988" }, { "coordinates": [ { "allele": "C", "end": 371800, "referenceAllele": "C", "start": 371799 } ], "hgvs": [ "NG_031854.2:g.371800C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS616325" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2263, "referenceAllele": "C", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "ENST00000609686.4:c.1555C=" ], "proteinEffect": { "hgvs": "ENSP00000477455.1:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS761752", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000609686.4:c.1555C=" }, "RefSeq": { "hgvs": "NM_000834.5:c.1555C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477455.1:p.Arg519=" }, "RefSeq": { "hgvs": "NP_000825.2:p.Arg519=" } } } }, { "coordinates": [ { "allele": "C", "end": 2009, "referenceAllele": "C", "start": 2008 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "ENST00000609686.3:c.1555C=" ], "proteinEffect": { "hgvs": "ENSP00000477455.1:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS400262" }, { "@id": "http://reg.genome.network/allele/PA3079672583", "coordinates": [ { "allele": "C", "end": 1734, "referenceAllele": "C", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "NM_000834.3:c.1555C=" ], "proteinEffect": { "hgvs": "NP_000825.2:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006863" }, { "coordinates": [ { "allele": "C", "end": 2301, "referenceAllele": "C", "start": 2300 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "XM_011520628.1:c.1555C=" ], "proteinEffect": { "hgvs": "XP_011518930.1:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS087794" }, { "coordinates": [ { "allele": "C", "end": 2324, "referenceAllele": "C", "start": 2323 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "XM_011520629.1:c.1555C=" ], "proteinEffect": { "hgvs": "XP_011518931.1:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS087795" }, { "coordinates": [ { "allele": "C", "end": 2092, "referenceAllele": "C", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "XM_011520630.1:c.1555C=" ], "proteinEffect": { "hgvs": "XP_011518932.1:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS087796" }, { "coordinates": [ { "allele": "G", "end": 294, "referenceAllele": "G", "start": 293 } ], "hgvs": [ "XR_931372.1:n.294G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS127486" }, { "coordinates": [ { "allele": "G", "end": 434, "referenceAllele": "G", "start": 433 } ], "hgvs": [ "XR_931373.1:n.434G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS127487" }, { "coordinates": [ { "allele": "G", "end": 233, "referenceAllele": "G", "start": 232 } ], "hgvs": [ "XR_931374.1:n.233G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS127488" }, { "@id": "http://reg.genome.network/allele/PA3079672583", "coordinates": [ { "allele": "C", "end": 2002, "referenceAllele": "C", "start": 2001 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "NM_000834.4:c.1555C=" ], "proteinEffect": { "hgvs": "NP_000825.2:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS510858" }, { "coordinates": [ { "allele": "C", "end": 2527, "referenceAllele": "C", "start": 2526 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "XM_011520628.2:c.1555C=" ], "proteinEffect": { "hgvs": "XP_011518930.1:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS545820" }, { "coordinates": [ { "allele": "C", "end": 2334, "referenceAllele": "C", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "XM_011520629.2:c.1555C=" ], "proteinEffect": { "hgvs": "XP_011518931.1:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS545821" }, { "coordinates": [ { "allele": "C", "end": 2083, "referenceAllele": "C", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "XM_017019219.2:c.1555C=" ], "proteinEffect": { "hgvs": "XP_016874708.1:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS570969" }, { "coordinates": [ { "allele": "G", "end": 715, "referenceAllele": "G", "start": 714 } ], "hgvs": [ "XR_001749013.1:n.715G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS596907" }, { "coordinates": [ { "allele": "G", "end": 431, "referenceAllele": "G", "start": 430 } ], "hgvs": [ "XR_931372.2:n.431G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS609877" }, { "coordinates": [ { "allele": "G", "end": 573, "referenceAllele": "G", "start": 572 } ], "hgvs": [ "XR_931373.2:n.573G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS609878" }, { "@id": "http://reg.genome.network/allele/PA3079672583", "coordinates": [ { "allele": "C", "end": 2263, "referenceAllele": "C", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN004586", "geneNCBI_id": 2904, "geneSymbol": "GRIN2B", "hgvs": [ "NM_000834.5:c.1555C=" ], "proteinEffect": { "hgvs": "NP_000825.2:p.Arg519=" }, "referenceSequence": "http://reg.genome.network/refseq/RS710879", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000609686.4:c.1555C=" }, "RefSeq": { "hgvs": "NM_000834.5:c.1555C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477455.1:p.Arg519=" }, "RefSeq": { "hgvs": "NP_000825.2:p.Arg519=" } } } } ], "type": "nucleotide" }