{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130437",
  "communityStandardTitle": [
    "NM_000834.5(GRIN2B):c.2172-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48258[alleleid]",
        "alleleId": 48258,
        "preferredName": "NM_000834.5(GRIN2B):c.2172-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39659",
        "RCV": [
          "RCV000032863"
        ],
        "variationId": 39659
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.13722953T>C?assembly=hg19",
        "id": "chr12:g.13722953T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.13570019T>C?assembly=hg38",
        "id": "chr12:g.13570019T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398122824",
        "rs": 398122824
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 13570019,
          "referenceAllele": "T",
          "start": 13570018
        }
      ],
      "hgvs": [
        "NC_000012.12:g.13570019T>C",
        "CM000674.2:g.13570019T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 13722953,
          "referenceAllele": "T",
          "start": 13722952
        }
      ],
      "hgvs": [
        "NC_000012.11:g.13722953T>C",
        "CM000674.1:g.13722953T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 13614220,
          "referenceAllele": "T",
          "start": 13614219
        }
      ],
      "hgvs": [
        "NC_000012.10:g.13614220T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415070,
          "referenceAllele": "A",
          "start": 415069
        }
      ],
      "hgvs": [
        "NG_031854.1:g.415070A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 416994,
          "referenceAllele": "A",
          "start": 416993
        }
      ],
      "hgvs": [
        "NG_031854.2:g.416994A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2879,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2879,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.4:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761752",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.2172-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.2172-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:n.2172-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:n.2172-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 431,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000628166.2:n.432-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 38584,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 38583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000637214.1:c.69+38584A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489997.1:n.69+38584A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2625,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2625,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.3:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 431,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000628166.1:n.432-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2350,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2350,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.3:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 72,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_005253351.2:c.-43-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253408.1:n.-43-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2917,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2917,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.1:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2940,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2940,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.1:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2708,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2708,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520630.1:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518932.1:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2618,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.4:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 77,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_005253351.3:c.-43-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253408.1:n.-43-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3143,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3143,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.2:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2950,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2950,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.2:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2699,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2699,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_017019219.2:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874708.1:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2879,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2879,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.5:c.2172-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:n.2172-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.2172-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.2172-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:n.2172-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:n.2172-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}