{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1752429416",
  "communityStandardTitle": [
    "NM_000238.4(KCNH2):c.3003G= (p.Trp1001=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912509",
        "rs": 121912509
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150947477,
          "referenceAllele": "C",
          "start": 150947476
        }
      ],
      "hgvs": [
        "NC_000007.14:g.150947477C=",
        "CM000669.2:g.150947477C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150644565,
          "referenceAllele": "C",
          "start": 150644564
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150644565C=",
        "CM000669.1:g.150644565C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150275498,
          "referenceAllele": "C",
          "start": 150275497
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150275498C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35450,
          "referenceAllele": "G",
          "start": 35449
        }
      ],
      "hgvs": [
        "NG_008916.1:g.35450G=",
        "LRG_288:g.35450G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001295"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3836,
          "referenceAllele": "G",
          "start": 3835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000684241.1:n.3836G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3411,
          "referenceAllele": "G",
          "start": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.10:c.3003G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Trp1001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.3003G="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.3003G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Trp1001="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Trp1001="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2284,
          "referenceAllele": "G",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.9:c.1983G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Trp661="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3405,
          "referenceAllele": "G",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.9:c.3003G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Trp1001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2386,
          "referenceAllele": "G",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.8:c.1983G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Trp661="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461709",
      "coordinates": [
        {
          "allele": "G",
          "end": 3404,
          "referenceAllele": "G",
          "start": 3403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.3:c.3003G=",
        "LRG_288t1:c.3003G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Trp1001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2309,
          "referenceAllele": "G",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.2:c.1983G=",
        "LRG_288t3:c.1983G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Trp661="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2718,
          "referenceAllele": "G",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.1:c.2703G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Trp901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3204,
          "referenceAllele": "G",
          "start": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.1:c.*83G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:n.*83G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2815,
          "referenceAllele": "G",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.2:c.2703G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Trp901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2890,
          "referenceAllele": "G",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.3:c.*83G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:n.*83G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3485,
          "referenceAllele": "G",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012195.1:c.2853G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867684.1:p.Trp951="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2945,
          "referenceAllele": "G",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012196.1:c.2826G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867685.1:p.Trp942="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461709",
      "coordinates": [
        {
          "allele": "G",
          "end": 3411,
          "referenceAllele": "G",
          "start": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.4:c.3003G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Trp1001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.3003G="
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.3003G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Trp1001="
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Trp1001="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2284,
          "referenceAllele": "G",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.3:c.1983G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Trp661="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729522"
    }
  ],
  "type": "nucleotide"
}