{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA423139067",
  "communityStandardTitle": [
    "NM_001006658.3(CR2):c.1776G>T (p.Leu592=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.207646322G>T?assembly=hg19",
        "id": "chr1:g.207646322G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.207472977G>T?assembly=hg38",
        "id": "chr1:g.207472977G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1048971",
        "rs": 1048971
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-207646322-G-T?dataset=gnomad_r2_1",
        "id": "1-207646322-G-T",
        "variant": "1:207646322 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-207472977-G-T?dataset=gnomad_r3",
        "id": "1-207472977-G-T",
        "variant": "1:207472977 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-207472977-G-T?dataset=gnomad_r4",
        "id": "1-207472977-G-T",
        "variant": "1:207472977 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 207472977,
          "referenceAllele": "G",
          "start": 207472976
        }
      ],
      "hgvs": [
        "NC_000001.11:g.207472977G>T",
        "CM000663.2:g.207472977G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 207646322,
          "referenceAllele": "G",
          "start": 207646321
        }
      ],
      "hgvs": [
        "NC_000001.10:g.207646322G>T",
        "CM000663.1:g.207646322G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 205712945,
          "referenceAllele": "G",
          "start": 205712944
        }
      ],
      "hgvs": [
        "NC_000001.9:g.205712945G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23678,
          "referenceAllele": "G",
          "start": 23677
        }
      ],
      "hgvs": [
        "NG_013006.1:g.23678G>T",
        "LRG_348:g.23678G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002653"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1916,
          "referenceAllele": "G",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "ENST00000699620.1:c.1407G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514480.1:p.Leu469="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1396,
          "referenceAllele": "G",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "ENST00000699621.1:c.1396G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "ENST00000367057.8:c.1776G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356024.3:p.Leu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367057.8:c.1776G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001006658.3:c.1776G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356024.3:p.Leu592="
          },
          "RefSeq": {
            "hgvs": "NP_001006659.1:p.Leu592="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "ENST00000367057.7:c.1776G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356024.3:p.Leu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "ENST00000367058.7:c.1776G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356025.3:p.Leu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "ENST00000367059.3:c.1776G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356026.3:p.Leu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825283014",
      "coordinates": [
        {
          "allele": "T",
          "end": 1895,
          "referenceAllele": "G",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "NM_001006658.2:c.1776G>T",
        "LRG_348t1:c.1776G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001006659.1:p.Leu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829354166",
      "coordinates": [
        {
          "allele": "T",
          "end": 1895,
          "referenceAllele": "G",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "NM_001877.4:c.1776G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001868.2:p.Leu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1791,
          "referenceAllele": "G",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "XM_011509206.1:c.1407G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507508.1:p.Leu469="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1786,
          "referenceAllele": "G",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "XM_011509206.3:c.1407G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507508.1:p.Leu469="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825283014",
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "NM_001006658.3:c.1776G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001006659.1:p.Leu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675247",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367057.8:c.1776G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001006658.3:c.1776G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356024.3:p.Leu592="
          },
          "RefSeq": {
            "hgvs": "NP_001006659.1:p.Leu592="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829354166",
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002336",
      "geneNCBI_id": 1380,
      "geneSymbol": "CR2",
      "hgvs": [
        "NM_001877.5:c.1776G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001868.2:p.Leu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695392"
    }
  ],
  "type": "nucleotide"
}