{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410196610",
  "communityStandardTitle": [
    "NM_172201.2(KCNE2):c.190A>T (p.Ile64Phe)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.35742967A>T?assembly=hg19",
        "id": "chr21:g.35742967A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.34370668A>T?assembly=hg38",
        "id": "chr21:g.34370668A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 34370668,
          "referenceAllele": "A",
          "start": 34370667
        }
      ],
      "hgvs": [
        "NC_000021.9:g.34370668A>T",
        "CM000683.2:g.34370668A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 35742967,
          "referenceAllele": "A",
          "start": 35742966
        }
      ],
      "hgvs": [
        "NC_000021.8:g.35742967A>T",
        "CM000683.1:g.35742967A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 34664837,
          "referenceAllele": "A",
          "start": 34664836
        }
      ],
      "hgvs": [
        "NC_000021.7:g.34664837A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11645,
          "referenceAllele": "A",
          "start": 11644
        }
      ],
      "hgvs": [
        "NG_008804.1:g.11645A>T",
        "LRG_291:g.11645A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001223"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "A",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "ENST00000290310.4:c.190A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290310.2:p.Ile64Phe",
        "hgvsWellDefined": "ENSP00000290310.2:p.Ile64Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290310.4:c.190A>T"
          },
          "RefSeq": {
            "hgvs": "NM_172201.2:c.190A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290310.2:p.Ile64Phe"
          },
          "RefSeq": {
            "hgvs": "NP_751951.1:p.Ile64Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "referenceAllele": "A",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "ENST00000290310.3:c.190A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290310.2:p.Ile64Phe",
        "hgvsWellDefined": "ENSP00000290310.2:p.Ile64Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "referenceAllele": "A",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "NM_172201.1:c.190A>T",
        "LRG_291t1:c.190A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751951.1:p.Ile64Phe",
        "hgvsWellDefined": "NP_751951.1:p.Ile64Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "referenceAllele": "T",
          "start": 652
        }
      ],
      "hgvs": [
        "XR_937683.1:n.653T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "referenceAllele": "T",
          "start": 652
        }
      ],
      "hgvs": [
        "XR_937684.1:n.653T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 774,
          "referenceAllele": "T",
          "start": 773
        }
      ],
      "hgvs": [
        "XR_001755012.2:n.774T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "referenceAllele": "T",
          "start": 652
        }
      ],
      "hgvs": [
        "XR_001755013.2:n.653T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "referenceAllele": "T",
          "start": 652
        }
      ],
      "hgvs": [
        "XR_937683.2:n.653T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "A",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "NM_172201.2:c.190A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751951.1:p.Ile64Phe",
        "hgvsWellDefined": "NP_751951.1:p.Ile64Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290310.4:c.190A>T"
          },
          "RefSeq": {
            "hgvs": "NM_172201.2:c.190A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290310.2:p.Ile64Phe"
          },
          "RefSeq": {
            "hgvs": "NP_751951.1:p.Ile64Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}