{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8738796",
  "communityStandardTitle": [
    "NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=846138[alleleid]",
        "alleleId": 846138,
        "preferredName": "NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/842216",
        "RCV": [
          "RCV001044601",
          "RCV002327286",
          "RCV003736964"
        ],
        "variationId": 842216
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-68172345-G-A",
        "id": "17-68172345-G-A",
        "variant": "17:68172345 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.68172345G>A?assembly=hg19",
        "id": "chr17:g.68172345G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.70176204G>A?assembly=hg38",
        "id": "chr17:g.70176204G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140053197",
        "rs": 140053197
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-68172345-G-A?dataset=gnomad_r2_1",
        "id": "17-68172345-G-A",
        "variant": "17:68172345 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-70176204-G-A?dataset=gnomad_r3",
        "id": "17-70176204-G-A",
        "variant": "17:70176204 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-70176204-G-A?dataset=gnomad_r4",
        "id": "17-70176204-G-A",
        "variant": "17:70176204 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 70176204,
          "referenceAllele": "G",
          "start": 70176203
        }
      ],
      "hgvs": [
        "NC_000017.11:g.70176204G>A",
        "CM000679.2:g.70176204G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 68172345,
          "referenceAllele": "G",
          "start": 68172344
        }
      ],
      "hgvs": [
        "NC_000017.10:g.68172345G>A",
        "CM000679.1:g.68172345G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 65683940,
          "referenceAllele": "G",
          "start": 65683939
        }
      ],
      "hgvs": [
        "NC_000017.9:g.65683940G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11670,
          "referenceAllele": "G",
          "start": 11669
        }
      ],
      "hgvs": [
        "NG_008798.1:g.11670G>A",
        "LRG_328:g.11670G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001218"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "ENST00000243457.4:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243457.2:p.Asp389Asn",
        "hgvsWellDefined": "ENSP00000243457.2:p.Asp389Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741178",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243457.4:c.1165G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000891.3:c.1165G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243457.2:p.Asp389Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000882.1:p.Asp389Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1548,
          "referenceAllele": "G",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "ENST00000243457.3:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243457.2:p.Asp389Asn",
        "hgvsWellDefined": "ENSP00000243457.2:p.Asp389Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1566,
          "referenceAllele": "G",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "ENST00000535240.1:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441848.1:p.Asp389Asn",
        "hgvsWellDefined": "ENSP00000441848.1:p.Asp389Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685488",
      "coordinates": [
        {
          "allele": "A",
          "end": 1548,
          "referenceAllele": "G",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "NM_000891.2:c.1165G>A",
        "LRG_328t1:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000882.1:p.Asp389Asn",
        "hgvsWellDefined": "NP_000882.1:p.Asp389Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1623,
          "referenceAllele": "G",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "XM_011524779.1:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523081.1:p.Asp389Asn",
        "hgvsWellDefined": "XP_011523081.1:p.Asp389Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685488",
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "NM_000891.3:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000882.1:p.Asp389Asn",
        "hgvsWellDefined": "NP_000882.1:p.Asp389Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674977",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243457.4:c.1165G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000891.3:c.1165G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243457.2:p.Asp389Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000882.1:p.Asp389Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}