{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13720689",
  "communityStandardTitle": [
    "NM_000834.5(GRIN2B):c.-19+17380G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.14115482C>T?assembly=hg19",
        "id": "chr12:g.14115482C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.13962548C>T?assembly=hg38",
        "id": "chr12:g.13962548C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4764043",
        "rs": 4764043
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-14115482-C-T?dataset=gnomad_r2_1",
        "id": "12-14115482-C-T",
        "variant": "12:14115482 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-13962548-C-T?dataset=gnomad_r3",
        "id": "12-13962548-C-T",
        "variant": "12:13962548 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-13962548-C-T?dataset=gnomad_r4",
        "id": "12-13962548-C-T",
        "variant": "12:13962548 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 13962548,
          "referenceAllele": "C",
          "start": 13962547
        }
      ],
      "hgvs": [
        "NC_000012.12:g.13962548C>T",
        "CM000674.2:g.13962548C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 14115482,
          "referenceAllele": "C",
          "start": 14115481
        }
      ],
      "hgvs": [
        "NC_000012.11:g.14115482C>T",
        "CM000674.1:g.14115482C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 14006749,
          "referenceAllele": "C",
          "start": 14006748
        }
      ],
      "hgvs": [
        "NC_000012.10:g.14006749C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22541,
          "referenceAllele": "G",
          "start": 22540
        }
      ],
      "hgvs": [
        "NG_031854.1:g.22541G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24465,
          "referenceAllele": "G",
          "start": 24464
        }
      ],
      "hgvs": [
        "NG_031854.2:g.24465G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 690,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.4:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761752",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.-19+17380G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.-19+17380G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:n.-19+17380G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:n.-19+17380G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 751,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000630791.2:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486677.2:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.3:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 471,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000627535.2:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486411.1:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 706,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000630791.1:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486677.1:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 161,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 161,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.3:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.1:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 751,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.1:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 519,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520630.1:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518932.1:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 429,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.4:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 954,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 954,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.2:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 761,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 761,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.2:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 510,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_017019219.2:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874708.1:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "+",
          "endIntronOffset": 17380,
          "referenceAllele": "G",
          "start": 690,
          "startIntronDirection": "+",
          "startIntronOffset": 17379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.5:c.-19+17380G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:n.-19+17380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.-19+17380G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.-19+17380G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:n.-19+17380G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:n.-19+17380G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}