{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2017464403",
  "communityStandardTitle": [
    "NM_000834.5(GRIN2B):c.1238A= (p.Glu413=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/527236034",
        "rs": 527236034
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 13616545,
          "referenceAllele": "T",
          "start": 13616544
        }
      ],
      "hgvs": [
        "NC_000012.12:g.13616545T=",
        "CM000674.2:g.13616545T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 13769479,
          "referenceAllele": "T",
          "start": 13769478
        }
      ],
      "hgvs": [
        "NC_000012.11:g.13769479T=",
        "CM000674.1:g.13769479T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 13660746,
          "referenceAllele": "T",
          "start": 13660745
        }
      ],
      "hgvs": [
        "NC_000012.10:g.13660746T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368544,
          "referenceAllele": "A",
          "start": 368543
        }
      ],
      "hgvs": [
        "NG_031854.1:g.368544A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370468,
          "referenceAllele": "A",
          "start": 370467
        }
      ],
      "hgvs": [
        "NG_031854.2:g.370468A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "referenceAllele": "A",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.4:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761752",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.1238A="
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.1238A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:p.Glu413="
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:p.Glu413="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2007,
          "referenceAllele": "A",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000630791.2:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486677.2:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "referenceAllele": "A",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.3:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079400003",
      "coordinates": [
        {
          "allele": "A",
          "end": 1417,
          "referenceAllele": "A",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.3:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1984,
          "referenceAllele": "A",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.1:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2007,
          "referenceAllele": "A",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.1:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "A",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520630.1:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518932.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "T",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "hgvs": [
        "XR_931372.1:n.307+1319T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "T",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "hgvs": [
        "XR_931373.1:n.447+1319T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "T",
          "start": 246,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "hgvs": [
        "XR_931374.1:n.246+1319T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079400003",
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "A",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.4:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2210,
          "referenceAllele": "A",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.2:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2017,
          "referenceAllele": "A",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.2:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_017019219.2:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874708.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "T",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "hgvs": [
        "XR_001749013.1:n.728+1319T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "T",
          "start": 444,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "hgvs": [
        "XR_931372.2:n.444+1319T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "endIntronDirection": "+",
          "endIntronOffset": 1319,
          "referenceAllele": "T",
          "start": 586,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "hgvs": [
        "XR_931373.2:n.586+1319T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079400003",
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "referenceAllele": "A",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.5:c.1238A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.1238A="
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.1238A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:p.Glu413="
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:p.Glu413="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}