{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358006",
  "communityStandardTitle": [
    "NM_018255.4(ELP2):c.617A>G (p.His206Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5812826",
        "active": true,
        "id": "COSM5812826"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5812827",
        "active": true,
        "id": "COSM5812827"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226967[alleleid]",
        "alleleId": 226967,
        "preferredName": "NM_018255.4(ELP2):c.617A>G (p.His206Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225008",
        "RCV": [
          "RCV000210560",
          "RCV000415587",
          "RCV000509137",
          "RCV000498075"
        ],
        "variationId": 225008
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-33722272-A-G",
        "id": "18-33722272-A-G",
        "variant": "18:33722272 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.33722272A>G?assembly=hg19",
        "id": "chr18:g.33722272A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.36142309A>G?assembly=hg38",
        "id": "chr18:g.36142309A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773432002",
        "rs": 773432002
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-33722272-A-G?dataset=gnomad_r2_1",
        "id": "18-33722272-A-G",
        "variant": "18:33722272 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-36142309-A-G?dataset=gnomad_r3",
        "id": "18-36142309-A-G",
        "variant": "18:36142309 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-36142309-A-G?dataset=gnomad_r4",
        "id": "18-36142309-A-G",
        "variant": "18:36142309 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 36142309,
          "referenceAllele": "A",
          "start": 36142308
        }
      ],
      "hgvs": [
        "NC_000018.10:g.36142309A>G",
        "CM000680.2:g.36142309A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 33722272,
          "referenceAllele": "A",
          "start": 33722271
        }
      ],
      "hgvs": [
        "NC_000018.9:g.33722272A>G",
        "CM000680.1:g.33722272A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 31976270,
          "referenceAllele": "A",
          "start": 31976269
        }
      ],
      "hgvs": [
        "NC_000018.8:g.31976270A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17436,
          "referenceAllele": "A",
          "start": 17435
        }
      ],
      "hgvs": [
        "NG_050745.1:g.17436A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616807"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000358232.11:c.617A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350967.6:p.His206Arg",
        "hgvsWellDefined": "ENSP00000350967.6:p.His206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749044",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358232.11:c.617A>G"
          },
          "RefSeq": {
            "hgvs": "NM_018255.4:c.617A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350967.6:p.His206Arg"
          },
          "RefSeq": {
            "hgvs": "NP_060725.1:p.His206Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "referenceAllele": "A",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000350494.10:c.734A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316051.6:p.His245Arg",
        "hgvsWellDefined": "ENSP00000316051.6:p.His245Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "A",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000351393.10:c.539A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257191.7:p.His180Arg",
        "hgvsWellDefined": "ENSP00000257191.7:p.His180Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "referenceAllele": "A",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000358232.10:c.617A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350967.6:p.His206Arg",
        "hgvsWellDefined": "ENSP00000350967.6:p.His206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 516,
          "referenceAllele": "A",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000423854.6:c.446-517A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391202.2:n.446-517A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 848,
          "referenceAllele": "A",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000442325.6:c.812A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414851.2:p.His271Arg",
        "hgvsWellDefined": "ENSP00000414851.2:p.His271Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 79,
          "referenceAllele": "A",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000535093.1:n.79A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 160,
          "referenceAllele": "A",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000536373.5:n.160A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "A",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000539560.5:c.617A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443555.1:p.His206Arg",
        "hgvsWellDefined": "ENSP00000443555.1:p.His206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000540323.5:n.504A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 576,
          "referenceAllele": "A",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000540730.5:n.576A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362557"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 297,
          "endIntronDirection": "+",
          "endIntronOffset": 5932,
          "referenceAllele": "A",
          "start": 297,
          "startIntronDirection": "+",
          "startIntronOffset": 5931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000540799.1:c.288+5932A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468091.1:n.288+5932A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "referenceAllele": "A",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000542430.5:c.*229A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440774.1:n.*229A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "A",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000542824.5:c.539A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443800.1:p.His180Arg",
        "hgvsWellDefined": "ENSP00000443800.1:p.His180Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "referenceAllele": "A",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000543127.5:c.170A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440426.1:p.His57Arg",
        "hgvsWellDefined": "ENSP00000440426.1:p.His57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 391,
          "referenceAllele": "A",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000543439.5:n.391A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "ENST00000545632.5:c.*304A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438533.1:n.*304A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA358007",
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "referenceAllele": "A",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242875.1:c.812A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229804.1:p.His271Arg",
        "hgvsWellDefined": "NP_001229804.1:p.His271Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826307795",
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "A",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242876.1:c.734A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229805.1:p.His245Arg",
        "hgvsWellDefined": "NP_001229805.1:p.His245Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826307897",
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242877.1:c.539A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229806.1:p.His180Arg",
        "hgvsWellDefined": "NP_001229806.1:p.His180Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018327"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826308004",
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242878.1:c.539A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229807.1:p.His180Arg",
        "hgvsWellDefined": "NP_001229807.1:p.His180Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "endIntronDirection": "-",
          "endIntronOffset": 516,
          "referenceAllele": "A",
          "start": 505,
          "startIntronDirection": "-",
          "startIntronOffset": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242879.1:c.446-517A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229808.1:n.446-517A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829902637",
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_018255.2:c.617A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060725.1:p.His206Arg",
        "hgvsWellDefined": "NP_060725.1:p.His206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NR_040110.1:n.677A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "referenceAllele": "A",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "XR_430081.1:n.847A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA358007",
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "referenceAllele": "A",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242875.2:c.812A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229804.1:p.His271Arg",
        "hgvsWellDefined": "NP_001229804.1:p.His271Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826307795",
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "A",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242876.2:c.734A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229805.1:p.His245Arg",
        "hgvsWellDefined": "NP_001229805.1:p.His245Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826307897",
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242877.2:c.539A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229806.1:p.His180Arg",
        "hgvsWellDefined": "NP_001229806.1:p.His180Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511919"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826308004",
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242878.2:c.539A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229807.1:p.His180Arg",
        "hgvsWellDefined": "NP_001229807.1:p.His180Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "endIntronDirection": "-",
          "endIntronOffset": 516,
          "referenceAllele": "A",
          "start": 505,
          "startIntronDirection": "-",
          "startIntronOffset": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242879.2:c.446-517A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229808.1:n.446-517A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827255816",
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001324465.1:c.617A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311394.1:p.His206Arg",
        "hgvsWellDefined": "NP_001311394.1:p.His206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827255926",
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "A",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001324466.1:c.734A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311395.1:p.His245Arg",
        "hgvsWellDefined": "NP_001311395.1:p.His245Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827256035",
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001324467.1:c.617A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311396.1:p.His206Arg",
        "hgvsWellDefined": "NP_001311396.1:p.His206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516013"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027634",
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "A",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001324468.1:c.170A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311397.1:p.His57Arg",
        "hgvsWellDefined": "NP_001311397.1:p.His57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829902637",
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_018255.3:c.617A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060725.1:p.His206Arg",
        "hgvsWellDefined": "NP_060725.1:p.His206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NR_040110.2:n.677A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "endIntronDirection": "-",
          "endIntronOffset": 516,
          "referenceAllele": "A",
          "start": 648,
          "startIntronDirection": "-",
          "startIntronOffset": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NR_136897.1:n.649-517A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NR_136898.1:n.677A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NR_137173.1:n.677A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "referenceAllele": "A",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "XR_430081.2:n.847A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829902637",
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_018255.4:c.617A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060725.1:p.His206Arg",
        "hgvsWellDefined": "NP_060725.1:p.His206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669586",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358232.11:c.617A>G"
          },
          "RefSeq": {
            "hgvs": "NM_018255.4:c.617A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350967.6:p.His206Arg"
          },
          "RefSeq": {
            "hgvs": "NP_060725.1:p.His206Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA358007",
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "referenceAllele": "A",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242875.3:c.812A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229804.1:p.His271Arg",
        "hgvsWellDefined": "NP_001229804.1:p.His271Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826307795",
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "A",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242876.3:c.734A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229805.1:p.His245Arg",
        "hgvsWellDefined": "NP_001229805.1:p.His245Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680141"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826307897",
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "A",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242877.3:c.539A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229806.1:p.His180Arg",
        "hgvsWellDefined": "NP_001229806.1:p.His180Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826308004",
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "A",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242878.3:c.539A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229807.1:p.His180Arg",
        "hgvsWellDefined": "NP_001229807.1:p.His180Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 516,
          "referenceAllele": "A",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001242879.3:c.446-517A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229808.1:n.446-517A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827255816",
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001324465.2:c.617A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311394.1:p.His206Arg",
        "hgvsWellDefined": "NP_001311394.1:p.His206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827255926",
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "A",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001324466.2:c.734A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311395.1:p.His245Arg",
        "hgvsWellDefined": "NP_001311395.1:p.His245Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827256035",
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001324467.2:c.617A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311396.1:p.His206Arg",
        "hgvsWellDefined": "NP_001311396.1:p.His206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027634",
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "referenceAllele": "A",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NM_001324468.2:c.170A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311397.1:p.His57Arg",
        "hgvsWellDefined": "NP_001311397.1:p.His57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NR_040110.3:n.652A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 623,
          "endIntronDirection": "-",
          "endIntronOffset": 516,
          "referenceAllele": "A",
          "start": 623,
          "startIntronDirection": "-",
          "startIntronOffset": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NR_136897.2:n.624-517A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703966"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NR_136898.2:n.652A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018248",
      "geneNCBI_id": 55250,
      "geneSymbol": "ELP2",
      "hgvs": [
        "NR_137173.2:n.652A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703973"
    }
  ],
  "type": "nucleotide"
}