{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA292498",
  "communityStandardTitle": [
    "NM_001377299.1(NDUFS2):c.1354+5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=142190[alleleid]",
        "alleleId": 142190,
        "preferredName": "NM_001377299.1(NDUFS2):c.1354+5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/138487",
        "RCV": [
          "RCV000127152",
          "RCV000275644",
          "RCV001303885",
          "RCV003965059"
        ],
        "variationId": 138487
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-161183716-G-A",
        "id": "1-161183716-G-A",
        "variant": "1:161183716 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.161183716G>A?assembly=hg19",
        "id": "chr1:g.161183716G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.161213926G>A?assembly=hg38",
        "id": "chr1:g.161213926G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/190184430",
        "rs": 190184430
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-161183716-G-A?dataset=gnomad_r2_1",
        "id": "1-161183716-G-A",
        "variant": "1:161183716 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-161213926-G-A?dataset=gnomad_r3",
        "id": "1-161213926-G-A",
        "variant": "1:161213926 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-161213926-G-A?dataset=gnomad_r4",
        "id": "1-161213926-G-A",
        "variant": "1:161213926 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 161213926,
          "referenceAllele": "G",
          "start": 161213925
        }
      ],
      "hgvs": [
        "NC_000001.11:g.161213926G>A",
        "CM000663.2:g.161213926G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 161183716,
          "referenceAllele": "G",
          "start": 161183715
        }
      ],
      "hgvs": [
        "NC_000001.10:g.161183716G>A",
        "CM000663.1:g.161183716G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 159450340,
          "referenceAllele": "G",
          "start": 159450339
        }
      ],
      "hgvs": [
        "NC_000001.9:g.159450340G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19612,
          "referenceAllele": "G",
          "start": 19611
        }
      ],
      "hgvs": [
        "NG_013352.1:g.19612G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3630,
          "referenceAllele": "G",
          "start": 3629
        }
      ],
      "hgvs": [
        "NG_029043.1:g.3630G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000392179.5:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376018.4:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "referenceAllele": "G",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000465923.6:n.1010G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000467295.6:n.1887G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1186,
          "referenceAllele": "G",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000468828.6:n.1186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000480762.6:n.1589G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 866,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000483804.6:n.866+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2345,
          "referenceAllele": "G",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000493849.6:n.2345G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2093,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2093,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000496553.6:n.2093+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000676535.1:n.1841G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1568,
          "referenceAllele": "G",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000676583.1:c.*830G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503681.1:n.*830G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1520,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000676600.1:c.1354+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503989.1:n.1354+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2115,
          "referenceAllele": "G",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000676653.1:n.2115G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1788,
          "referenceAllele": "G",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000676726.1:n.1788G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2220,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2220,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000676770.1:n.2220+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1070,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000676795.1:c.*936+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504650.1:n.*936+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1893,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1893,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000676871.1:n.1893+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1373,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000676972.1:c.1354+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503117.1:n.1354+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776642",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676972.1:c.1354+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001377299.1:c.1354+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503117.1:n.1354+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001364228.1:n.1354+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "G",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000676991.1:n.1949G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2423,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2423,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677033.1:n.2423+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1319,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677045.1:c.*1025+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504168.1:n.*1025+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "referenceAllele": "G",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677050.1:n.2013G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677063.1:c.*1030G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504572.1:n.*1030G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1755,
          "referenceAllele": "G",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677081.1:c.*291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503728.1:n.*291G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2913,
          "referenceAllele": "G",
          "start": 2912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677089.1:n.2913G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1824,
          "referenceAllele": "G",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677103.1:n.1824G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "referenceAllele": "G",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677138.1:c.*336G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504839.1:n.*336G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1793,
          "referenceAllele": "G",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677178.1:n.1793G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "G",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677231.1:c.1281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503378.1:p.Thr427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1713,
          "referenceAllele": "G",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677336.1:n.1713G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2157,
          "referenceAllele": "G",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677350.1:n.2157G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677358.1:n.1452G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2825,
          "referenceAllele": "G",
          "start": 2824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677383.1:n.2825G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1533,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1533,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677453.1:c.1417+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503604.1:n.1417+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677457.1:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503294.1:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1708,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1708,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677471.1:n.1708+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1719,
          "referenceAllele": "G",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677495.1:n.1719G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1498,
          "referenceAllele": "G",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677547.1:c.*433G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504269.1:n.*433G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1714,
          "referenceAllele": "G",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677550.1:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503353.1:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3985,
          "referenceAllele": "G",
          "start": 3984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677577.1:n.3985G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "G",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677579.1:c.1422G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504162.1:p.Thr474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1818,
          "referenceAllele": "G",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677613.1:c.*291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504258.1:n.*291G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1768,
          "referenceAllele": "G",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677643.1:n.1768G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1467,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1467,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677653.1:c.*729+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504542.1:n.*729+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1763,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1763,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677657.1:n.1763+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2144,
          "referenceAllele": "G",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677736.1:n.2144G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2172,
          "referenceAllele": "G",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677745.1:n.2172G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1973,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1973,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677807.1:n.1973+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2152,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2152,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677809.1:n.2152+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1331,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677837.1:c.*1088+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503661.1:n.*1088+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1720,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1720,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677846.1:c.1417+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504065.1:n.1417+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3538,
          "referenceAllele": "G",
          "start": 3537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677916.1:n.3538G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1978,
          "referenceAllele": "G",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677925.1:n.1978G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1282,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000677948.1:c.*1039+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503510.1:n.*1039+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2740,
          "referenceAllele": "G",
          "start": 2739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678052.1:n.2740G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3090,
          "referenceAllele": "G",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678068.1:n.3090G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678130.1:n.2070G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678328.1:n.2084G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3565,
          "referenceAllele": "G",
          "start": 3564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678356.1:n.3565G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3854,
          "referenceAllele": "G",
          "start": 3853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678484.1:n.3854G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3749,
          "referenceAllele": "G",
          "start": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678492.1:n.3749G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1665,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1665,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678507.1:c.1354+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504199.1:n.1354+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1440,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678511.1:c.1354+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504846.1:n.1354+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678532.1:c.*1044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504682.1:n.*1044G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1389,
          "referenceAllele": "G",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678559.1:c.*1153G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504285.1:n.*1153G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778200"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678605.1:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503969.1:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3618,
          "referenceAllele": "G",
          "start": 3617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678613.1:n.3618G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2029,
          "referenceAllele": "G",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678648.1:n.2029G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1378,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678783.1:c.1279+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504215.1:n.1279+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678793.1:c.*682G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503431.1:n.*682G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1714,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1714,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678850.1:n.1714+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678880.1:c.*900G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503015.1:n.*900G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1579,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1579,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678911.1:c.1276+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503946.1:n.1276+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1772,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1772,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678966.1:n.1772+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000678982.1:c.*1030G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504597.1:n.*1030G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1751,
          "referenceAllele": "G",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000679064.1:c.*224G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502868.1:n.*224G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1886,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000679071.1:n.1886+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1459,
          "referenceAllele": "G",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000679142.1:c.1459G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504800.1:n.1459G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000679169.1:c.*1123G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504096.1:n.*1123G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000679176.1:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504170.1:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2253,
          "referenceAllele": "G",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000679215.1:n.2253G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000679239.1:c.*734G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504555.1:n.*734G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1527,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1527,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000679282.1:c.*219+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504533.1:n.*219+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1802,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000367993.7:c.1354+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356972.3:n.1354+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000392179.4:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376018.4:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000465923.5:n.724G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000468828.5:n.466G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 978,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000483804.5:n.978+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000492153.1:n.373G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "ENST00000493849.5:n.540G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826026223",
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "NM_001166159.1:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159631.1:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1802,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "NM_004550.4:c.1354+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004541.1:n.1354+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1662,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "XM_005245208.1:c.1354+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245265.1:n.1354+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1273,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "XM_005245209.1:c.1060+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245266.1:n.1060+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1961,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1961,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "XM_005245209.2:c.1060+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245266.1:n.1060+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532380"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826026223",
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "NM_001166159.2:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159631.1:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1664,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1664,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "NM_001377298.1:c.1354+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364227.1:n.1354+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1373,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "NM_001377299.1:c.1354+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364228.1:n.1354+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676972.1:c.1354+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001377299.1:c.1354+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503117.1:n.1354+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001364228.1:n.1354+5G>A"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828711188",
      "coordinates": [
        {
          "allele": "A",
          "end": 1669,
          "referenceAllele": "G",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "NM_001377300.1:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364229.1:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695084"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828711310",
      "coordinates": [
        {
          "allele": "A",
          "end": 1817,
          "referenceAllele": "G",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "NM_001377301.1:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364230.1:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828711432",
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "NM_001377302.1:c.1359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364231.1:p.Thr453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "NR_165188.1:n.1248G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1802,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007708",
      "geneNCBI_id": 4720,
      "geneSymbol": "NDUFS2",
      "hgvs": [
        "NM_004550.5:c.1354+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004541.1:n.1354+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727514"
    }
  ],
  "type": "nucleotide"
}