{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15214877",
  "communityStandardTitle": [
    "NM_002518.4(NPAS2):c.1630-729A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.101603812A>G?assembly=hg19",
        "id": "chr2:g.101603812A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.100987350A>G?assembly=hg38",
        "id": "chr2:g.100987350A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11123857",
        "rs": 11123857
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-101603812-A-G?dataset=gnomad_r2_1",
        "id": "2-101603812-A-G",
        "variant": "2:101603812 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-100987350-A-G?dataset=gnomad_r3",
        "id": "2-100987350-A-G",
        "variant": "2:100987350 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-100987350-A-G?dataset=gnomad_r4",
        "id": "2-100987350-A-G",
        "variant": "2:100987350 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 100987350,
          "referenceAllele": "A",
          "start": 100987349
        }
      ],
      "hgvs": [
        "NC_000002.12:g.100987350A>G",
        "CM000664.2:g.100987350A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 101603812,
          "referenceAllele": "A",
          "start": 101603811
        }
      ],
      "hgvs": [
        "NC_000002.11:g.101603812A>G",
        "CM000664.1:g.101603812A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 100970244,
          "referenceAllele": "A",
          "start": 100970243
        }
      ],
      "hgvs": [
        "NC_000002.10:g.100970244A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 172200,
          "referenceAllele": "A",
          "start": 172199
        }
      ],
      "hgvs": [
        "NG_023259.1:g.172200A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003751"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1927,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1927,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "ENST00000335681.10:c.1630-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338283.5:n.1630-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747516",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335681.10:c.1630-729A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002518.4:c.1630-729A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338283.5:n.1630-729A>G"
          },
          "RefSeq": {
            "hgvs": "NP_002509.2:n.1630-729A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1914,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1914,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "ENST00000335681.9:c.1630-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338283.5:n.1630-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 124,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "ENST00000433408.1:c.125-729A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 4973,
          "referenceAllele": "A",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 4972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "ENST00000450763.1:c.426+4973A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392125.1:n.426+4973A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5936,
          "referenceAllele": "A",
          "start": 5935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "ENST00000474550.5:n.5936A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1915,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1915,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "NM_002518.3:c.1630-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002509.2:n.1630-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1826,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263953.1:c.1825-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264010.1:n.1825-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1826,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263954.1:c.1825-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264011.1:n.1825-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1712,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263957.1:c.1711-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264014.1:n.1711-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1826,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263959.1:c.1825-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264016.1:n.1825-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1517,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1517,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263960.1:c.1516-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264017.1:n.1516-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1718,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1718,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263961.3:c.1258-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264018.1:n.1258-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1793,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1793,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_011511242.1:c.1540-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509544.1:n.1540-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1826,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XR_922928.1:n.1827-729A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1826,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263953.2:c.1825-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264010.1:n.1825-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1826,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263959.2:c.1825-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264016.1:n.1825-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1517,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1517,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263960.2:c.1516-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264017.1:n.1516-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1720,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1720,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263961.4:c.1258-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264018.1:n.1258-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1793,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1793,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_011511242.2:c.1540-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509544.1:n.1540-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1826,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_017004214.1:c.1825-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859703.1:n.1825-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1826,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_017004215.1:c.1825-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859704.1:n.1825-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1826,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_017004216.1:c.1825-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859705.1:n.1825-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1517,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1517,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_017004217.1:c.1516-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859706.1:n.1516-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1927,
          "endIntronDirection": "-",
          "endIntronOffset": 728,
          "referenceAllele": "A",
          "start": 1927,
          "startIntronDirection": "-",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "NM_002518.4:c.1630-729A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002509.2:n.1630-729A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335681.10:c.1630-729A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002518.4:c.1630-729A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338283.5:n.1630-729A>G"
          },
          "RefSeq": {
            "hgvs": "NP_002509.2:n.1630-729A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}