{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580603395",
  "communityStandardTitle": [
    "NC_000014.9:g.64296935A>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2987983",
        "rs": 2987983
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 64296935,
          "referenceAllele": "A",
          "start": 64296934
        }
      ],
      "hgvs": [
        "NC_000014.9:g.64296935A>C",
        "CM000676.2:g.64296935A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 64763653,
          "referenceAllele": "A",
          "start": 64763652
        }
      ],
      "hgvs": [
        "NC_000014.8:g.64763653A>C",
        "CM000676.1:g.64763653A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 63833406,
          "referenceAllele": "A",
          "start": 63833405
        }
      ],
      "hgvs": [
        "NC_000014.7:g.63833406A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46616,
          "referenceAllele": "T",
          "start": 46615
        }
      ],
      "hgvs": [
        "NG_011535.1:g.46616T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001797"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "endIntronDirection": "-",
          "endIntronOffset": 13859,
          "referenceAllele": "T",
          "start": 215,
          "startIntronDirection": "-",
          "startIntronOffset": 13860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "ENST00000358599.9:c.-90-13860T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351412.5:n.-90-13860T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1184,
          "endIntronDirection": "+",
          "endIntronOffset": 598,
          "referenceAllele": "T",
          "start": 1184,
          "startIntronDirection": "+",
          "startIntronOffset": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "ENST00000554572.5:c.-91+598T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450699.1:n.-91+598T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1638,
          "endIntronDirection": "+",
          "endIntronOffset": 598,
          "referenceAllele": "T",
          "start": 1638,
          "startIntronDirection": "+",
          "startIntronOffset": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NM_001291712.1:c.-91+598T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278641.1:n.-91+598T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "endIntronDirection": "-",
          "endIntronOffset": 13859,
          "referenceAllele": "T",
          "start": 653,
          "startIntronDirection": "-",
          "startIntronOffset": 13860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NM_001291723.1:c.-90-13860T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278652.1:n.-90-13860T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "endIntronDirection": "-",
          "endIntronOffset": 13859,
          "referenceAllele": "T",
          "start": 653,
          "startIntronDirection": "-",
          "startIntronOffset": 13860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NR_073496.1:n.654-13860T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052640"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 948,
          "endIntronDirection": "+",
          "endIntronOffset": 4433,
          "referenceAllele": "T",
          "start": 948,
          "startIntronDirection": "+",
          "startIntronOffset": 4432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_011536546.1:c.-91+4433T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534848.1:n.-91+4433T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1042,
          "endIntronDirection": "-",
          "endIntronOffset": 13859,
          "referenceAllele": "T",
          "start": 1042,
          "startIntronDirection": "-",
          "startIntronOffset": 13860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021079.1:c.-90-13860T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876568.1:n.-90-13860T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "endIntronDirection": "-",
          "endIntronOffset": 13859,
          "referenceAllele": "T",
          "start": 1851,
          "startIntronDirection": "-",
          "startIntronOffset": 13860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021080.1:c.-90-13860T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876569.1:n.-90-13860T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 947,
          "endIntronDirection": "-",
          "endIntronOffset": 13859,
          "referenceAllele": "T",
          "start": 947,
          "startIntronDirection": "-",
          "startIntronOffset": 13860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021081.1:c.-90-13860T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876570.1:n.-90-13860T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "endIntronDirection": "-",
          "endIntronOffset": 13859,
          "referenceAllele": "T",
          "start": 799,
          "startIntronDirection": "-",
          "startIntronOffset": 13860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021082.1:c.-90-13860T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876571.1:n.-90-13860T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "endIntronDirection": "-",
          "endIntronOffset": 13859,
          "referenceAllele": "T",
          "start": 216,
          "startIntronDirection": "-",
          "startIntronOffset": 13860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021083.1:c.-90-13860T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876572.1:n.-90-13860T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1042,
          "endIntronDirection": "-",
          "endIntronOffset": 13859,
          "referenceAllele": "T",
          "start": 1042,
          "startIntronDirection": "-",
          "startIntronOffset": 13860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021084.1:c.-90-13860T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876573.1:n.-90-13860T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "endIntronDirection": "+",
          "endIntronOffset": 598,
          "referenceAllele": "T",
          "start": 1701,
          "startIntronDirection": "+",
          "startIntronOffset": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NM_001291712.2:c.-91+598T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278641.1:n.-91+598T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 716,
          "endIntronDirection": "-",
          "endIntronOffset": 13859,
          "referenceAllele": "T",
          "start": 716,
          "startIntronDirection": "-",
          "startIntronOffset": 13860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NR_073496.2:n.717-13860T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702739"
    }
  ],
  "type": "nucleotide"
}