{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2387096173",
  "communityStandardTitle": [
    "NM_172201.2(KCNE2):c.-13+5G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205806",
        "rs": 786205806
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 34364156,
          "referenceAllele": "G",
          "start": 34364155
        }
      ],
      "hgvs": [
        "NC_000021.9:g.34364156G=",
        "CM000683.2:g.34364156G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 35736455,
          "referenceAllele": "G",
          "start": 35736454
        }
      ],
      "hgvs": [
        "NC_000021.8:g.35736455G=",
        "CM000683.1:g.35736455G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 34658325,
          "referenceAllele": "G",
          "start": 34658324
        }
      ],
      "hgvs": [
        "NC_000021.7:g.34658325G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5133,
          "referenceAllele": "G",
          "start": 5132
        }
      ],
      "hgvs": [
        "NG_008804.1:g.5133G=",
        "LRG_291:g.5133G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001223"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "ENST00000290310.4:c.-13+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290310.2:n.-13+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290310.4:c.-13+5G="
          },
          "RefSeq": {
            "hgvs": "NM_172201.2:c.-13+5G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290310.2:n.-13+5G="
          },
          "RefSeq": {
            "hgvs": "NP_751951.1:n.-13+5G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "ENST00000290310.3:c.-13+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290310.2:n.-13+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "NM_172201.1:c.-13+5G=",
        "LRG_291t1:c.-13+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_751951.1:n.-13+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1045,
          "endIntronDirection": "-",
          "endIntronOffset": 2079,
          "referenceAllele": "C",
          "start": 1045,
          "startIntronDirection": "-",
          "startIntronOffset": 2080
        }
      ],
      "hgvs": [
        "XR_937683.1:n.1046-2080C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1045,
          "endIntronDirection": "-",
          "endIntronOffset": 2079,
          "referenceAllele": "C",
          "start": 1045,
          "startIntronDirection": "-",
          "startIntronOffset": 2080
        }
      ],
      "hgvs": [
        "XR_937684.1:n.1046-2080C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1671,
          "endIntronDirection": "-",
          "endIntronOffset": 2079,
          "referenceAllele": "C",
          "start": 1671,
          "startIntronDirection": "-",
          "startIntronOffset": 2080
        }
      ],
      "hgvs": [
        "XR_001755012.2:n.1672-2080C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1550,
          "endIntronDirection": "-",
          "endIntronOffset": 2079,
          "referenceAllele": "C",
          "start": 1550,
          "startIntronDirection": "-",
          "startIntronOffset": 2080
        }
      ],
      "hgvs": [
        "XR_001755013.2:n.1551-2080C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1045,
          "endIntronDirection": "-",
          "endIntronOffset": 2079,
          "referenceAllele": "C",
          "start": 1045,
          "startIntronDirection": "-",
          "startIntronOffset": 2080
        }
      ],
      "hgvs": [
        "XR_937683.2:n.1046-2080C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "NM_172201.2:c.-13+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_751951.1:n.-13+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290310.4:c.-13+5G="
          },
          "RefSeq": {
            "hgvs": "NM_172201.2:c.-13+5G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290310.2:n.-13+5G="
          },
          "RefSeq": {
            "hgvs": "NP_751951.1:n.-13+5G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}