{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14047808",
  "communityStandardTitle": [
    "NM_001113498.3(MDGA2):c.1820-28140C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.47454986G>A?assembly=hg19",
        "id": "chr14:g.47454986G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.46985783G>A?assembly=hg38",
        "id": "chr14:g.46985783G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11627056",
        "rs": 11627056
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-47454986-G-A?dataset=gnomad_r2_1",
        "id": "14-47454986-G-A",
        "variant": "14:47454986 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-46985783-G-A?dataset=gnomad_r3",
        "id": "14-46985783-G-A",
        "variant": "14:46985783 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-46985783-G-A?dataset=gnomad_r4",
        "id": "14-46985783-G-A",
        "variant": "14:46985783 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 46985783,
          "referenceAllele": "G",
          "start": 46985782
        }
      ],
      "hgvs": [
        "NC_000014.9:g.46985783G>A",
        "CM000676.2:g.46985783G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 47454986,
          "referenceAllele": "G",
          "start": 47454985
        }
      ],
      "hgvs": [
        "NC_000014.8:g.47454986G>A",
        "CM000676.1:g.47454986G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 46524736,
          "referenceAllele": "G",
          "start": 46524735
        }
      ],
      "hgvs": [
        "NC_000014.7:g.46524736G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2628,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 2628,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "ENST00000399232.8:c.1820-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382178.4:n.1820-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399232.8:c.1820-28140C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001113498.3:c.1820-28140C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382178.4:n.1820-28140C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001106970.4:n.1820-28140C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1549,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "ENST00000426342.7:c.1223-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405456.4:n.1223-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1560,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1560,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "ENST00000357362.7:c.926-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349925.3:n.926-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1977,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1977,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "ENST00000399232.6:c.1613-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382178.3:n.1613-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1549,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "ENST00000426342.5:c.1223-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405456.2:n.1223-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1700,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "ENST00000557238.5:c.*198-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452593.1:n.*198-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1977,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1977,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "NM_001113498.2:c.1613-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106970.3:n.1613-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1683,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1683,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "NM_182830.4:c.926-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_878250.2:n.926-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1846,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1846,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XM_011536519.1:c.1685-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534821.1:n.1685-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2357,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 2357,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XM_011536520.1:c.1820-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534822.1:n.1820-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2063,
          "endIntronDirection": "-",
          "endIntronOffset": 65622,
          "referenceAllele": "C",
          "start": 2063,
          "startIntronDirection": "-",
          "startIntronOffset": 65623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XM_011536521.1:c.1526-65623C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534823.1:n.1526-65623C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "endIntronDirection": "+",
          "endIntronOffset": 8861,
          "referenceAllele": "C",
          "start": 2441,
          "startIntronDirection": "+",
          "startIntronOffset": 8860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XM_011536522.1:c.*37+8861C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534824.1:n.*37+8861C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 925,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XM_011536524.1:c.458-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534826.1:n.458-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1114,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XM_011536525.1:c.293-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534827.1:n.293-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1832,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1832,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XM_011536519.2:c.1685-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534821.1:n.1685-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2423,
          "endIntronDirection": "+",
          "endIntronOffset": 8861,
          "referenceAllele": "C",
          "start": 2423,
          "startIntronDirection": "+",
          "startIntronOffset": 8860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XM_011536522.3:c.*37+8861C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534824.1:n.*37+8861C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 1114,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XM_011536525.2:c.293-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534827.1:n.293-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 943,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XM_017021060.1:c.458-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876549.1:n.458-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 2313,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "XR_001750175.2:n.2314-28140C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2628,
          "endIntronDirection": "-",
          "endIntronOffset": 28139,
          "referenceAllele": "C",
          "start": 2628,
          "startIntronDirection": "-",
          "startIntronOffset": 28140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019835",
      "geneNCBI_id": 161357,
      "geneSymbol": "MDGA2",
      "hgvs": [
        "NM_001113498.3:c.1820-28140C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106970.4:n.1820-28140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712112",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399232.8:c.1820-28140C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001113498.3:c.1820-28140C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382178.4:n.1820-28140C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001106970.4:n.1820-28140C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}