{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8745232",
  "communityStandardTitle": [
    "NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1385732",
        "active": true,
        "id": "COSM1385732"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=256373[alleleid]",
        "alleleId": 256373,
        "preferredName": "NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/261649",
        "RCV": [
          "RCV000241834",
          "RCV002518653"
        ],
        "variationId": 261649
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-72277999-G-A",
        "id": "17-72277999-G-A",
        "variant": "17:72277999 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.72277999G>A?assembly=hg19",
        "id": "chr17:g.72277999G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.74281860G>A?assembly=hg38",
        "id": "chr17:g.74281860G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758997612",
        "rs": 758997612
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-72277999-G-A?dataset=gnomad_r2_1",
        "id": "17-72277999-G-A",
        "variant": "17:72277999 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74281860-G-A?dataset=gnomad_r3",
        "id": "17-74281860-G-A",
        "variant": "17:74281860 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74281860-G-A?dataset=gnomad_r4",
        "id": "17-74281860-G-A",
        "variant": "17:74281860 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 74281860,
          "referenceAllele": "G",
          "start": 74281859
        }
      ],
      "hgvs": [
        "NC_000017.11:g.74281860G>A",
        "CM000679.2:g.74281860G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 72277999,
          "referenceAllele": "G",
          "start": 72277998
        }
      ],
      "hgvs": [
        "NC_000017.10:g.72277999G>A",
        "CM000679.1:g.72277999G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 69789594,
          "referenceAllele": "G",
          "start": 69789593
        }
      ],
      "hgvs": [
        "NC_000017.9:g.69789594G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12614,
          "referenceAllele": "G",
          "start": 12613
        }
      ],
      "hgvs": [
        "NG_016865.1:g.12614G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000311014.11:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308312.6:p.Gly15Arg",
        "hgvsWellDefined": "ENSP00000308312.6:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311014.11:c.43G>A"
          },
          "RefSeq": {
            "hgvs": "NM_023036.6:c.43G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308312.6:p.Gly15Arg"
          },
          "RefSeq": {
            "hgvs": "NP_075462.3:p.Gly15Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "referenceAllele": "G",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000311014.10:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308312.6:p.Gly15Arg",
        "hgvsWellDefined": "ENSP00000308312.6:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000446837.2:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400252.2:p.Gly15Arg",
        "hgvsWellDefined": "ENSP00000400252.2:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144,
          "referenceAllele": "G",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000579055.5:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462767.1:p.Gly15Arg",
        "hgvsWellDefined": "ENSP00000462767.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000579490.5:c.214G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464197.1:p.Gly72Arg",
        "hgvsWellDefined": "ENSP00000464197.1:p.Gly72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000582036.5:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461950.1:p.Gly15Arg",
        "hgvsWellDefined": "ENSP00000461950.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826081415",
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Gly15Arg",
        "hgvsWellDefined": "NP_001166281.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469886",
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "G",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.4:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Gly15Arg",
        "hgvsWellDefined": "NP_075462.3:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "referenceAllele": "G",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_011525125.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523427.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_011523427.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "G",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_429915.2:n.165G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "G",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_429916.2:n.165G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "referenceAllele": "G",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934518.1:n.167G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934519.1:n.164G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934520.1:n.240G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934521.1:n.152G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140,
          "referenceAllele": "G",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934522.1:n.140G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "referenceAllele": "G",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934523.1:n.149G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "referenceAllele": "G",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934524.1:n.167G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "referenceAllele": "G",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934525.1:n.167G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "referenceAllele": "G",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934526.1:n.167G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "G",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934527.1:n.165G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "G",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934528.1:n.165G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934529.1:n.168G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934530.1:n.241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "referenceAllele": "G",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934531.1:n.167G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826081415",
      "coordinates": [
        {
          "allele": "A",
          "end": 187,
          "referenceAllele": "G",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.2:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Gly15Arg",
        "hgvsWellDefined": "NP_001166281.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827711945",
      "coordinates": [
        {
          "allele": "A",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001353167.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340096.1:p.Gly15Arg",
        "hgvsWellDefined": "NP_001340096.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469886",
      "coordinates": [
        {
          "allele": "A",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.5:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Gly15Arg",
        "hgvsWellDefined": "NP_075462.3:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NR_148379.1:n.190G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_011525125.2:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523427.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_011523427.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "referenceAllele": "G",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450874.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306642.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306642.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "G",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450875.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306643.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306643.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450876.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306644.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306644.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140,
          "referenceAllele": "G",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450877.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306645.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306645.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 120,
          "referenceAllele": "G",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450878.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306646.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306646.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450879.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306647.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306647.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450880.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306648.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306648.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450881.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306649.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306649.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450882.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306650.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306650.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450883.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306651.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306651.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450884.1:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306652.1:p.Gly15Arg",
        "hgvsWellDefined": "XP_024306652.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450885.1:c.-265G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306653.1:n.-265G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 244,
          "referenceAllele": "G",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450886.1:c.-265G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306654.1:n.-265G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469886",
      "coordinates": [
        {
          "allele": "A",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.6:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Gly15Arg",
        "hgvsWellDefined": "NP_075462.3:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670544",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311014.11:c.43G>A"
          },
          "RefSeq": {
            "hgvs": "NM_023036.6:c.43G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308312.6:p.Gly15Arg"
          },
          "RefSeq": {
            "hgvs": "NP_075462.3:p.Gly15Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826081415",
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.3:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Gly15Arg",
        "hgvsWellDefined": "NP_001166281.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827711945",
      "coordinates": [
        {
          "allele": "A",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001353167.2:c.43G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340096.1:p.Gly15Arg",
        "hgvsWellDefined": "NP_001340096.1:p.Gly15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NR_148379.2:n.166G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704721"
    }
  ],
  "type": "nucleotide"
}