{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008797",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.2452G>A (p.Glu818Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36284[alleleid]",
        "alleleId": 36284,
        "preferredName": "NM_020975.6(RET):c.2452G>A (p.Glu818Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/24943",
        "RCV": [
          "RCV000148782",
          "RCV000410539",
          "RCV000411157",
          "RCV000571277",
          "RCV000799360",
          "RCV002490401",
          "RCV003460490"
        ],
        "variationId": 24943
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-43615038-G-A",
        "id": "10-43615038-G-A",
        "variant": "10:43615038 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43615038G>A?assembly=hg19",
        "id": "chr10:g.43615038G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43119590G>A?assembly=hg38",
        "id": "chr10:g.43119590G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377767420",
        "rs": 377767420
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43615038-G-A?dataset=gnomad_r2_1",
        "id": "10-43615038-G-A",
        "variant": "10:43615038 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43119590-G-A?dataset=gnomad_r3",
        "id": "10-43119590-G-A",
        "variant": "10:43119590 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43119590-G-A?dataset=gnomad_r4",
        "id": "10-43119590-G-A",
        "variant": "10:43119590 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 43119590,
          "referenceAllele": "G",
          "start": 43119589
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43119590G>A",
        "CM000672.2:g.43119590G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 43615038,
          "referenceAllele": "G",
          "start": 43615037
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43615038G>A",
        "CM000672.1:g.43615038G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 42935044,
          "referenceAllele": "G",
          "start": 42935043
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42935044G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47522,
          "referenceAllele": "G",
          "start": 47521
        }
      ],
      "hgvs": [
        "NG_007489.1:g.47522G>A",
        "LRG_518:g.47522G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2229,
          "referenceAllele": "G",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.2056G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Glu686Lys",
        "hgvsWellDefined": "ENSP00000480088.2:p.Glu686Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2026,
          "referenceAllele": "G",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.2026G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2017,
          "referenceAllele": "G",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.2017G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2642,
          "referenceAllele": "G",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Glu818Lys",
        "hgvsWellDefined": "ENSP00000344798.4:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2642,
          "referenceAllele": "G",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Glu818Lys",
        "hgvsWellDefined": "ENSP00000347942.3:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.2452G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.2452G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Glu818Lys"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Glu818Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "referenceAllele": "G",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*1046G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*1046G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*1046G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*1046G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2632,
          "referenceAllele": "G",
          "start": 2631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Glu818Lys",
        "hgvsWellDefined": "ENSP00000344798.4:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2684,
          "referenceAllele": "G",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Glu818Lys",
        "hgvsWellDefined": "ENSP00000347942.3:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 1479,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1290-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1290-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128377",
      "coordinates": [
        {
          "allele": "A",
          "end": 2642,
          "referenceAllele": "G",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.2452G>A",
        "LRG_518t2:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Glu818Lys",
        "hgvsWellDefined": "NP_065681.1:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128378",
      "coordinates": [
        {
          "allele": "A",
          "end": 2642,
          "referenceAllele": "G",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.2452G>A",
        "LRG_518t1:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Glu818Lys",
        "hgvsWellDefined": "NP_066124.1:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2684,
          "referenceAllele": "G",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Glu818Lys",
        "hgvsWellDefined": "XP_011538329.1:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828048380",
      "coordinates": [
        {
          "allele": "A",
          "end": 2047,
          "referenceAllele": "G",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.1690G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Glu564Lys",
        "hgvsWellDefined": "NP_001342145.1:p.Glu564Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128377",
      "coordinates": [
        {
          "allele": "A",
          "end": 2684,
          "referenceAllele": "G",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Glu818Lys",
        "hgvsWellDefined": "NP_065681.1:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128378",
      "coordinates": [
        {
          "allele": "A",
          "end": 2684,
          "referenceAllele": "G",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Glu818Lys",
        "hgvsWellDefined": "NP_066124.1:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128378",
      "coordinates": [
        {
          "allele": "A",
          "end": 2642,
          "referenceAllele": "G",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Glu818Lys",
        "hgvsWellDefined": "NP_066124.1:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.2452G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.2452G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Glu818Lys"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Glu818Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA128377",
      "coordinates": [
        {
          "allele": "A",
          "end": 2642,
          "referenceAllele": "G",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.2452G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Glu818Lys",
        "hgvsWellDefined": "NP_065681.1:p.Glu818Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}