{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA239939",
  "communityStandardTitle": [
    "NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191281[alleleid]",
        "alleleId": 191281,
        "preferredName": "NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194118",
        "RCV": [
          "RCV000174403",
          "RCV001243976"
        ],
        "variationId": 194118
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-72308262-G-A",
        "id": "17-72308262-G-A",
        "variant": "17:72308262 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.72308262G>A?assembly=hg19",
        "id": "chr17:g.72308262G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.74312123G>A?assembly=hg38",
        "id": "chr17:g.74312123G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199817659",
        "rs": 199817659
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-72308262-G-A?dataset=gnomad_r2_1",
        "id": "17-72308262-G-A",
        "variant": "17:72308262 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74312123-G-A?dataset=gnomad_r3",
        "id": "17-74312123-G-A",
        "variant": "17:74312123 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74312123-G-A?dataset=gnomad_r4",
        "id": "17-74312123-G-A",
        "variant": "17:74312123 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 74312123,
          "referenceAllele": "G",
          "start": 74312122
        }
      ],
      "hgvs": [
        "NC_000017.11:g.74312123G>A",
        "CM000679.2:g.74312123G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 72308262,
          "referenceAllele": "G",
          "start": 72308261
        }
      ],
      "hgvs": [
        "NC_000017.10:g.72308262G>A",
        "CM000679.1:g.72308262G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 69819857,
          "referenceAllele": "G",
          "start": 69819856
        }
      ],
      "hgvs": [
        "NC_000017.9:g.69819857G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42877,
          "referenceAllele": "G",
          "start": 42876
        }
      ],
      "hgvs": [
        "NG_016865.1:g.42877G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000311014.11:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308312.6:p.Val539Ile",
        "hgvsWellDefined": "ENSP00000308312.6:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311014.11:c.1615G>A"
          },
          "RefSeq": {
            "hgvs": "NM_023036.6:c.1615G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308312.6:p.Val539Ile"
          },
          "RefSeq": {
            "hgvs": "NP_075462.3:p.Val539Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1682,
          "referenceAllele": "G",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000311014.10:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308312.6:p.Val539Ile",
        "hgvsWellDefined": "ENSP00000308312.6:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1921,
          "referenceAllele": "G",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000446837.2:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400252.2:p.Val539Ile",
        "hgvsWellDefined": "ENSP00000400252.2:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1546,
          "endIntronDirection": "+",
          "endIntronOffset": 48,
          "referenceAllele": "G",
          "start": 1546,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000579055.5:c.*938+48G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462767.1:n.*938+48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1921,
          "referenceAllele": "G",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000579490.5:c.1786G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464197.1:p.Val596Ile",
        "hgvsWellDefined": "ENSP00000464197.1:p.Val596Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000582036.5:c.1579G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461950.1:p.Val527Ile",
        "hgvsWellDefined": "ENSP00000461950.1:p.Val527Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826082404",
      "coordinates": [
        {
          "allele": "A",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.1:c.1579G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Val527Ile",
        "hgvsWellDefined": "NP_001166281.1:p.Val527Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA239940",
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "G",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.4:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Val539Ile",
        "hgvsWellDefined": "NP_075462.3:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_011525125.1:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523427.1:p.Val539Ile",
        "hgvsWellDefined": "XP_011523427.1:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1701,
          "referenceAllele": "G",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_429915.2:n.1701G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1616,
          "endIntronDirection": "+",
          "endIntronOffset": 1960,
          "referenceAllele": "G",
          "start": 1616,
          "startIntronDirection": "+",
          "startIntronOffset": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_429916.2:n.1616+1960G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934518.1:n.1739G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1736,
          "referenceAllele": "G",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934519.1:n.1736G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1812,
          "referenceAllele": "G",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934520.1:n.1812G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934521.1:n.1724G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934522.1:n.1712G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1721,
          "referenceAllele": "G",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934523.1:n.1721G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934524.1:n.1739G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1703,
          "referenceAllele": "G",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934525.1:n.1703G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1625,
          "referenceAllele": "G",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934526.1:n.1625G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "endIntronDirection": "+",
          "endIntronOffset": 48,
          "referenceAllele": "G",
          "start": 1689,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934527.1:n.1689+48G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "endIntronDirection": "+",
          "endIntronOffset": 48,
          "referenceAllele": "G",
          "start": 1689,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934528.1:n.1689+48G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934529.1:n.1618G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1691,
          "referenceAllele": "G",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934530.1:n.1691G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "endIntronDirection": "+",
          "endIntronOffset": 48,
          "referenceAllele": "G",
          "start": 1569,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934531.1:n.1569+48G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "hgvs": [
        "XR_934970.1:n.482C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "referenceAllele": "C",
          "start": 315
        }
      ],
      "hgvs": [
        "XR_934971.1:n.316C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130259"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826082404",
      "coordinates": [
        {
          "allele": "A",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.2:c.1579G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Val527Ile",
        "hgvsWellDefined": "NP_001166281.1:p.Val527Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827712348",
      "coordinates": [
        {
          "allele": "A",
          "end": 1762,
          "referenceAllele": "G",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001353167.1:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340096.1:p.Val539Ile",
        "hgvsWellDefined": "NP_001340096.1:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA239940",
      "coordinates": [
        {
          "allele": "A",
          "end": 1762,
          "referenceAllele": "G",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.5:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Val539Ile",
        "hgvsWellDefined": "NP_075462.3:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "endIntronDirection": "+",
          "endIntronOffset": 48,
          "referenceAllele": "G",
          "start": 1592,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NR_148379.1:n.1592+48G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1742,
          "referenceAllele": "G",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_011525125.2:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523427.1:p.Val539Ile",
        "hgvsWellDefined": "XP_011523427.1:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450874.1:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306642.1:p.Val539Ile",
        "hgvsWellDefined": "XP_024306642.1:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1815,
          "referenceAllele": "G",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450875.1:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306643.1:p.Val539Ile",
        "hgvsWellDefined": "XP_024306643.1:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1707,
          "referenceAllele": "G",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450876.1:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306644.1:p.Val539Ile",
        "hgvsWellDefined": "XP_024306644.1:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450877.1:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306645.1:p.Val539Ile",
        "hgvsWellDefined": "XP_024306645.1:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "referenceAllele": "G",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450878.1:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306646.1:p.Val539Ile",
        "hgvsWellDefined": "XP_024306646.1:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1742,
          "referenceAllele": "G",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450879.1:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306647.1:p.Val539Ile",
        "hgvsWellDefined": "XP_024306647.1:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1706,
          "referenceAllele": "G",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450880.1:c.1579G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306648.1:p.Val527Ile",
        "hgvsWellDefined": "XP_024306648.1:p.Val527Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450881.1:c.1501G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306649.1:p.Val501Ile",
        "hgvsWellDefined": "XP_024306649.1:p.Val501Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1704,
          "referenceAllele": "G",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450882.1:c.1579G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306650.1:p.Val527Ile",
        "hgvsWellDefined": "XP_024306650.1:p.Val527Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "endIntronDirection": "+",
          "endIntronOffset": 48,
          "referenceAllele": "G",
          "start": 1692,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450883.1:c.1567+48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306651.1:n.1567+48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "endIntronDirection": "+",
          "endIntronOffset": 48,
          "referenceAllele": "G",
          "start": 1692,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450884.1:c.1567+48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306652.1:n.1567+48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1621,
          "referenceAllele": "G",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450885.1:c.1186G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306653.1:p.Val396Ile",
        "hgvsWellDefined": "XP_024306653.1:p.Val396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1694,
          "referenceAllele": "G",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450886.1:c.1186G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306654.1:p.Val396Ile",
        "hgvsWellDefined": "XP_024306654.1:p.Val396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "hgvs": [
        "XR_934970.2:n.486C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "hgvs": [
        "XR_934971.2:n.321C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA239940",
      "coordinates": [
        {
          "allele": "A",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.6:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Val539Ile",
        "hgvsWellDefined": "NP_075462.3:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670544",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311014.11:c.1615G>A"
          },
          "RefSeq": {
            "hgvs": "NM_023036.6:c.1615G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308312.6:p.Val539Ile"
          },
          "RefSeq": {
            "hgvs": "NP_075462.3:p.Val539Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826082404",
      "coordinates": [
        {
          "allele": "A",
          "end": 1699,
          "referenceAllele": "G",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.3:c.1579G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Val527Ile",
        "hgvsWellDefined": "NP_001166281.1:p.Val527Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827712348",
      "coordinates": [
        {
          "allele": "A",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001353167.2:c.1615G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340096.1:p.Val539Ile",
        "hgvsWellDefined": "NP_001340096.1:p.Val539Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1568,
          "endIntronDirection": "+",
          "endIntronOffset": 48,
          "referenceAllele": "G",
          "start": 1568,
          "startIntronDirection": "+",
          "startIntronOffset": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NR_148379.2:n.1568+48G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704721"
    }
  ],
  "type": "nucleotide"
}