{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141581117",
  "communityStandardTitle": [
    "NM_000702.4(ATP1A2):c.2152G= (p.Asp718=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918614",
        "rs": 121918614
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 160135470,
          "referenceAllele": "G",
          "start": 160135469
        }
      ],
      "hgvs": [
        "NC_000001.11:g.160135470G=",
        "CM000663.2:g.160135470G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 160105260,
          "referenceAllele": "G",
          "start": 160105259
        }
      ],
      "hgvs": [
        "NC_000001.10:g.160105260G=",
        "CM000663.1:g.160105260G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 158371884,
          "referenceAllele": "G",
          "start": 158371883
        }
      ],
      "hgvs": [
        "NC_000001.9:g.158371884G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24713,
          "referenceAllele": "G",
          "start": 24712
        }
      ],
      "hgvs": [
        "NG_008014.1:g.24713G=",
        "LRG_6:g.24713G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000774"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "ENST00000361216.8:c.2152G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354490.3:p.Asp718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749421",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361216.8:c.2152G="
          },
          "RefSeq": {
            "hgvs": "NM_000702.4:c.2152G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354490.3:p.Asp718="
          },
          "RefSeq": {
            "hgvs": "NP_000693.1:p.Asp718="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2241,
          "referenceAllele": "G",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "ENST00000361216.7:c.2152G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354490.3:p.Asp718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2237,
          "referenceAllele": "G",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "ENST00000392233.7:c.2152G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376066.3:p.Asp718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "referenceAllele": "G",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "ENST00000447527.1:c.1284G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "ENST00000472488.5:n.2255G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916433",
      "coordinates": [
        {
          "allele": "G",
          "end": 2284,
          "referenceAllele": "G",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "NM_000702.3:c.2152G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000693.1:p.Asp718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916433",
      "coordinates": [
        {
          "allele": "G",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "NM_000702.4:c.2152G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000693.1:p.Asp718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361216.8:c.2152G="
          },
          "RefSeq": {
            "hgvs": "NM_000702.4:c.2152G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354490.3:p.Asp718="
          },
          "RefSeq": {
            "hgvs": "NP_000693.1:p.Asp718="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}