{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10616328",
  "communityStandardTitle": [
    "NM_000821.7(GGCX):c.2133T>G (p.Pro711=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=291073[alleleid]",
        "alleleId": 291073,
        "preferredName": "NM_000821.7(GGCX):c.2133T>G (p.Pro711=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/337257",
        "RCV": [
          "RCV000377112",
          "RCV002519988"
        ],
        "variationId": 337257
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.85777201A>C?assembly=hg19",
        "id": "chr2:g.85777201A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.85550078A>C?assembly=hg38",
        "id": "chr2:g.85550078A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886056379",
        "rs": 886056379
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 85550078,
          "referenceAllele": "A",
          "start": 85550077
        }
      ],
      "hgvs": [
        "NC_000002.12:g.85550078A>C",
        "CM000664.2:g.85550078A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 85777201,
          "referenceAllele": "A",
          "start": 85777200
        }
      ],
      "hgvs": [
        "NC_000002.11:g.85777201A>C",
        "CM000664.1:g.85777201A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 85630712,
          "referenceAllele": "A",
          "start": 85630711
        }
      ],
      "hgvs": [
        "NC_000002.10:g.85630712A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16457,
          "referenceAllele": "T",
          "start": 16456
        }
      ],
      "hgvs": [
        "NG_011811.2:g.16457T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001994"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6611,
          "referenceAllele": "T",
          "start": 6610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000473665.2:n.6611T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5018,
          "referenceAllele": "T",
          "start": 5017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000482662.2:n.5018T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3171,
          "referenceAllele": "T",
          "start": 3170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000685865.1:n.3171T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2664,
          "referenceAllele": "T",
          "start": 2663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000687250.1:n.2664T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2485,
          "referenceAllele": "T",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000687995.1:n.2485T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2528,
          "referenceAllele": "T",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000688205.1:c.*1726T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509673.1:n.*1726T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831499"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2372,
          "referenceAllele": "T",
          "start": 2371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000688788.1:n.2372T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2072,
          "referenceAllele": "T",
          "start": 2071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000689276.1:c.2064T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510012.1:p.Pro688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2280,
          "referenceAllele": "T",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000689576.1:c.*752T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508712.1:n.*752T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2233,
          "referenceAllele": "T",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000690108.1:c.*1789T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510617.1:n.*1789T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1774,
          "referenceAllele": "T",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000690468.1:c.*685T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509078.1:n.*685T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1531,
          "referenceAllele": "T",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000690595.1:c.1458T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508979.1:p.Pro486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1883,
          "referenceAllele": "T",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000691348.1:c.*685T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509369.1:n.*685T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2085,
          "referenceAllele": "T",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000691410.1:c.*1710T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508479.1:n.*1710T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1623,
          "referenceAllele": "T",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000693287.1:c.1449T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510264.1:p.Pro483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 817,
          "referenceAllele": "T",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000693354.1:n.817T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1541,
          "referenceAllele": "T",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000693681.1:c.1446T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510789.1:p.Pro482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2198,
          "referenceAllele": "T",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000233838.9:c.2133T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233838.3:p.Pro711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740931",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233838.9:c.2133T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000821.7:c.2133T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233838.3:p.Pro711="
          },
          "RefSeq": {
            "hgvs": "NP_000812.2:p.Pro711="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2214,
          "referenceAllele": "T",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000233838.8:c.2133T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233838.3:p.Pro711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2066,
          "referenceAllele": "T",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000430215.7:c.1962T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408045.3:p.Pro654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 2073,
          "referenceAllele": "T",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "ENST00000465637.5:n.179-2074T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309198"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825229100",
      "coordinates": [
        {
          "allele": "G",
          "end": 2239,
          "referenceAllele": "T",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_000821.5:c.2133T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000812.2:p.Pro711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825229100",
      "coordinates": [
        {
          "allele": "G",
          "end": 2239,
          "referenceAllele": "T",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_000821.6:c.2133T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000812.2:p.Pro711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825838128",
      "coordinates": [
        {
          "allele": "G",
          "end": 2068,
          "referenceAllele": "T",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_001142269.2:c.1962T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135741.1:p.Pro654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825838128",
      "coordinates": [
        {
          "allele": "G",
          "end": 2068,
          "referenceAllele": "T",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_001142269.3:c.1962T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135741.1:p.Pro654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2192,
          "referenceAllele": "T",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_005264259.3:c.2127T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264316.1:p.Pro709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2039,
          "referenceAllele": "T",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_011532764.1:c.1311T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531066.1:p.Pro437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1878,
          "referenceAllele": "T",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_011532765.1:c.1311T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531067.1:p.Pro437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2192,
          "referenceAllele": "T",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_005264259.5:c.2127T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264316.1:p.Pro709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2034,
          "referenceAllele": "T",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_011532764.3:c.1311T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531066.1:p.Pro437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1872,
          "referenceAllele": "T",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_011532765.3:c.1311T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531067.1:p.Pro437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2055,
          "referenceAllele": "T",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XM_017003803.2:c.1956T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859292.1:p.Pro652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "T",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "XR_001738703.2:n.2046T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825229100",
      "coordinates": [
        {
          "allele": "G",
          "end": 2198,
          "referenceAllele": "T",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_000821.7:c.2133T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000812.2:p.Pro711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233838.9:c.2133T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000821.7:c.2133T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233838.3:p.Pro711="
          },
          "RefSeq": {
            "hgvs": "NP_000812.2:p.Pro711="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825838128",
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "T",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004247",
      "geneNCBI_id": 2677,
      "geneSymbol": "GGCX",
      "hgvs": [
        "NM_001142269.4:c.1962T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135741.1:p.Pro654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677483"
    }
  ],
  "type": "nucleotide"
}