{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2142593331",
  "communityStandardTitle": [
    "NM_001437.3(ESR2):c.-91+4000C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17179740",
        "rs": 17179740
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 64290033,
          "referenceAllele": "G",
          "start": 64290032
        }
      ],
      "hgvs": [
        "NC_000014.9:g.64290033G=",
        "CM000676.2:g.64290033G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 64756751,
          "referenceAllele": "G",
          "start": 64756750
        }
      ],
      "hgvs": [
        "NC_000014.8:g.64756751G=",
        "CM000676.1:g.64756751G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 63826504,
          "referenceAllele": "G",
          "start": 63826503
        }
      ],
      "hgvs": [
        "NC_000014.7:g.63826504G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 53518,
          "referenceAllele": "C",
          "start": 53517
        }
      ],
      "hgvs": [
        "NG_011535.1:g.53518C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001797"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 4000,
          "referenceAllele": "C",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "ENST00000341099.6:c.-91+4000C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343925.4:n.-91+4000C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747960",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341099.6:c.-91+4000C="
          },
          "RefSeq": {
            "hgvs": "NM_001437.3:c.-91+4000C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343925.4:n.-91+4000C="
          },
          "RefSeq": {
            "hgvs": "NP_001428.1:n.-91+4000C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 328,
          "endIntronDirection": "+",
          "endIntronOffset": 4000,
          "referenceAllele": "C",
          "start": 328,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "ENST00000341099.5:c.-91+4000C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343925.4:n.-91+4000C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "+",
          "endIntronOffset": 4000,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "ENST00000353772.7:c.-91+4000C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335551.4:n.-91+4000C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 215,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "ENST00000358599.9:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351412.5:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1184,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 1184,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "ENST00000554572.5:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450699.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "+",
          "endIntronOffset": 4000,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "ENST00000556275.5:c.-91+4000C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452485.2:n.-91+4000C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "+",
          "endIntronOffset": 4000,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NM_001040275.1:c.-91+4000C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035365.1:n.-91+4000C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1638,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 1638,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NM_001291712.1:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278641.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 653,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 653,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NM_001291723.1:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278652.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "+",
          "endIntronOffset": 4000,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NM_001437.2:c.-91+4000C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001428.1:n.-91+4000C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 653,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 653,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NR_073496.1:n.654-6958C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 4000,
          "referenceAllele": "C",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_011536545.1:c.-91+4000C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534847.1:n.-91+4000C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 948,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_011536546.1:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534848.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 1042,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021079.1:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876568.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1851,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 1851,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021080.1:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876569.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 947,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 947,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021081.1:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876570.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 799,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021082.1:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876571.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 216,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021083.1:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876572.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 1042,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XM_017021084.1:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876573.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 485,
          "endIntronDirection": "+",
          "endIntronOffset": 4000,
          "referenceAllele": "C",
          "start": 485,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "XR_001750187.1:n.485+4000C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1701,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 1701,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NM_001291712.2:c.-90-6958C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278641.1:n.-90-6958C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 716,
          "endIntronDirection": "-",
          "endIntronOffset": 6957,
          "referenceAllele": "C",
          "start": 716,
          "startIntronDirection": "-",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NR_073496.2:n.717-6958C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 4000,
          "referenceAllele": "C",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003468",
      "geneNCBI_id": 2100,
      "geneSymbol": "ESR2",
      "hgvs": [
        "NM_001437.3:c.-91+4000C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001428.1:n.-91+4000C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727180",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341099.6:c.-91+4000C="
          },
          "RefSeq": {
            "hgvs": "NM_001437.3:c.-91+4000C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343925.4:n.-91+4000C="
          },
          "RefSeq": {
            "hgvs": "NP_001428.1:n.-91+4000C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}