{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410196595",
  "communityStandardTitle": [
    "NM_172201.2(KCNE2):c.186C>G (p.Phe62Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.35742963C>G?assembly=hg19",
        "id": "chr21:g.35742963C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.34370664C>G?assembly=hg38",
        "id": "chr21:g.34370664C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/930268832",
        "rs": 930268832
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-34370664-C-G?dataset=gnomad_r4",
        "id": "21-34370664-C-G",
        "variant": "21:34370664 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 34370664,
          "referenceAllele": "C",
          "start": 34370663
        }
      ],
      "hgvs": [
        "NC_000021.9:g.34370664C>G",
        "CM000683.2:g.34370664C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 35742963,
          "referenceAllele": "C",
          "start": 35742962
        }
      ],
      "hgvs": [
        "NC_000021.8:g.35742963C>G",
        "CM000683.1:g.35742963C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 34664833,
          "referenceAllele": "C",
          "start": 34664832
        }
      ],
      "hgvs": [
        "NC_000021.7:g.34664833C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11641,
          "referenceAllele": "C",
          "start": 11640
        }
      ],
      "hgvs": [
        "NG_008804.1:g.11641C>G",
        "LRG_291:g.11641C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001223"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 344,
          "referenceAllele": "C",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "ENST00000290310.4:c.186C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290310.2:p.Phe62Leu",
        "hgvsWellDefined": "ENSP00000290310.2:p.Phe62Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290310.4:c.186C>G"
          },
          "RefSeq": {
            "hgvs": "NM_172201.2:c.186C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290310.2:p.Phe62Leu"
          },
          "RefSeq": {
            "hgvs": "NP_751951.1:p.Phe62Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "ENST00000290310.3:c.186C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290310.2:p.Phe62Leu",
        "hgvsWellDefined": "ENSP00000290310.2:p.Phe62Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088418031",
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "NM_172201.1:c.186C>G",
        "LRG_291t1:c.186C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_751951.1:p.Phe62Leu",
        "hgvsWellDefined": "NP_751951.1:p.Phe62Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "hgvs": [
        "XR_937683.1:n.657G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "hgvs": [
        "XR_937684.1:n.657G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "hgvs": [
        "XR_001755012.2:n.778G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "hgvs": [
        "XR_001755013.2:n.657G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "hgvs": [
        "XR_937683.2:n.657G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088418031",
      "coordinates": [
        {
          "allele": "G",
          "end": 344,
          "referenceAllele": "C",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "NM_172201.2:c.186C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_751951.1:p.Phe62Leu",
        "hgvsWellDefined": "NP_751951.1:p.Phe62Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290310.4:c.186C>G"
          },
          "RefSeq": {
            "hgvs": "NM_172201.2:c.186C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290310.2:p.Phe62Leu"
          },
          "RefSeq": {
            "hgvs": "NP_751951.1:p.Phe62Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}