{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11276119",
  "communityStandardTitle": [
    "NM_002518.4(NPAS2):c.-23+20113G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.101456989G>A?assembly=hg19",
        "id": "chr2:g.101456989G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.100840527G>A?assembly=hg38",
        "id": "chr2:g.100840527G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10165970",
        "rs": 10165970
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-101456989-G-A?dataset=gnomad_r2_1",
        "id": "2-101456989-G-A",
        "variant": "2:101456989 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-100840527-G-A?dataset=gnomad_r3",
        "id": "2-100840527-G-A",
        "variant": "2:100840527 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-100840527-G-A?dataset=gnomad_r4",
        "id": "2-100840527-G-A",
        "variant": "2:100840527 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 100840527,
          "referenceAllele": "G",
          "start": 100840526
        }
      ],
      "hgvs": [
        "NC_000002.12:g.100840527G>A",
        "CM000664.2:g.100840527G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 101456989,
          "referenceAllele": "G",
          "start": 101456988
        }
      ],
      "hgvs": [
        "NC_000002.11:g.101456989G>A",
        "CM000664.1:g.101456989G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 100823421,
          "referenceAllele": "G",
          "start": 100823420
        }
      ],
      "hgvs": [
        "NC_000002.10:g.100823421G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25377,
          "referenceAllele": "G",
          "start": 25376
        }
      ],
      "hgvs": [
        "NG_023259.1:g.25377G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003751"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 20113,
          "referenceAllele": "G",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 20112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "ENST00000335681.10:c.-23+20113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338283.5:n.-23+20113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747516",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335681.10:c.-23+20113G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002518.4:c.-23+20113G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338283.5:n.-23+20113G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002509.2:n.-23+20113G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 263,
          "endIntronDirection": "+",
          "endIntronOffset": 20113,
          "referenceAllele": "G",
          "start": 263,
          "startIntronDirection": "+",
          "startIntronOffset": 20112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "ENST00000335681.9:c.-23+20113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338283.5:n.-23+20113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "ENST00000427413.5:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397595.2:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 264,
          "endIntronDirection": "+",
          "endIntronOffset": 20113,
          "referenceAllele": "G",
          "start": 264,
          "startIntronDirection": "+",
          "startIntronOffset": 20112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "NM_002518.3:c.-23+20113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002509.2:n.-23+20113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263953.1:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264010.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263954.1:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264011.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263957.1:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264014.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263959.1:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264016.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263960.1:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264017.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 20113,
          "referenceAllele": "G",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 20112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_011511242.1:c.-23+20113G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509544.1:n.-23+20113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_011511243.1:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509545.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XR_922928.1:n.175+19328G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263953.2:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264010.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263959.2:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264016.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_005263960.2:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264017.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 20113,
          "referenceAllele": "G",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 20112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_011511242.2:c.-23+20113G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509544.1:n.-23+20113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_011511243.2:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509545.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_017004214.1:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859703.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_017004215.1:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859704.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_017004216.1:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859705.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 19328,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 19327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "XM_017004217.1:c.173+19328G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859706.1:n.173+19328G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 20113,
          "referenceAllele": "G",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 20112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007895",
      "geneNCBI_id": 4862,
      "geneSymbol": "NPAS2",
      "hgvs": [
        "NM_002518.4:c.-23+20113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002509.2:n.-23+20113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335681.10:c.-23+20113G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002518.4:c.-23+20113G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338283.5:n.-23+20113G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002509.2:n.-23+20113G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}