{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA623857446",
  "communityStandardTitle": [
    "NM_014861.4(ATP2C2):c.100-9071G>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.84423034G>C?assembly=hg19",
        "id": "chr16:g.84423034G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.84389428G>C?assembly=hg38",
        "id": "chr16:g.84389428G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8048576",
        "rs": 8048576
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-84423034-G-C?dataset=gnomad_r2_1",
        "id": "16-84423034-G-C",
        "variant": "16:84423034 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-84389428-G-C?dataset=gnomad_r3",
        "id": "16-84389428-G-C",
        "variant": "16:84389428 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-84389428-G-C?dataset=gnomad_r4",
        "id": "16-84389428-G-C",
        "variant": "16:84389428 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 84389428,
          "referenceAllele": "G",
          "start": 84389427
        }
      ],
      "hgvs": [
        "NC_000016.10:g.84389428G>C",
        "CM000678.2:g.84389428G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 84423034,
          "referenceAllele": "G",
          "start": 84423033
        }
      ],
      "hgvs": [
        "NC_000016.9:g.84423034G>C",
        "CM000678.1:g.84423034G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 82980535,
          "referenceAllele": "G",
          "start": 82980534
        }
      ],
      "hgvs": [
        "NC_000016.8:g.82980535G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 9070,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029103",
      "geneNCBI_id": 9914,
      "geneSymbol": "ATP2C2",
      "hgvs": [
        "ENST00000262429.9:c.100-9071G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262429.4:n.100-9071G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262429.9:c.100-9071G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014861.4:c.100-9071G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262429.4:n.100-9071G>C"
          },
          "RefSeq": {
            "hgvs": "NP_055676.3:n.100-9071G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 188,
          "endIntronDirection": "-",
          "endIntronOffset": 9070,
          "referenceAllele": "G",
          "start": 188,
          "startIntronDirection": "-",
          "startIntronOffset": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029103",
      "geneNCBI_id": 9914,
      "geneSymbol": "ATP2C2",
      "hgvs": [
        "ENST00000262429.8:c.100-9071G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262429.4:n.100-9071G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 188,
          "endIntronDirection": "-",
          "endIntronOffset": 9070,
          "referenceAllele": "G",
          "start": 188,
          "startIntronDirection": "-",
          "startIntronOffset": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029103",
      "geneNCBI_id": 9914,
      "geneSymbol": "ATP2C2",
      "hgvs": [
        "ENST00000416219.6:c.100-9071G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397925.2:n.100-9071G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 192,
          "endIntronDirection": "-",
          "endIntronOffset": 9070,
          "referenceAllele": "G",
          "start": 192,
          "startIntronDirection": "-",
          "startIntronOffset": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029103",
      "geneNCBI_id": 9914,
      "geneSymbol": "ATP2C2",
      "hgvs": [
        "NM_001286527.2:c.100-9071G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273456.2:n.100-9071G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022968"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 192,
          "endIntronDirection": "-",
          "endIntronOffset": 9070,
          "referenceAllele": "G",
          "start": 192,
          "startIntronDirection": "-",
          "startIntronOffset": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029103",
      "geneNCBI_id": 9914,
      "geneSymbol": "ATP2C2",
      "hgvs": [
        "NM_014861.3:c.100-9071G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055676.3:n.100-9071G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 192,
          "endIntronDirection": "-",
          "endIntronOffset": 9070,
          "referenceAllele": "G",
          "start": 192,
          "startIntronDirection": "-",
          "startIntronOffset": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029103",
      "geneNCBI_id": 9914,
      "geneSymbol": "ATP2C2",
      "hgvs": [
        "XR_001752045.1:n.193-9071G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 9070,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029103",
      "geneNCBI_id": 9914,
      "geneSymbol": "ATP2C2",
      "hgvs": [
        "NM_001286527.3:c.100-9071G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273456.2:n.100-9071G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 9070,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029103",
      "geneNCBI_id": 9914,
      "geneSymbol": "ATP2C2",
      "hgvs": [
        "NM_014861.4:c.100-9071G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055676.3:n.100-9071G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728008",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262429.9:c.100-9071G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014861.4:c.100-9071G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262429.4:n.100-9071G>C"
          },
          "RefSeq": {
            "hgvs": "NP_055676.3:n.100-9071G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}