{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6680459",
  "communityStandardTitle": [
    "NM_006431.3(CCT2):c.100G>A (p.Ala34Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1417430[alleleid]",
        "alleleId": 1417430,
        "preferredName": "NM_006431.3(CCT2):c.100G>A (p.Ala34Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1504679",
        "RCV": [
          "RCV002028981"
        ],
        "variationId": 1504679
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-69980554-G-A",
        "id": "12-69980554-G-A",
        "variant": "12:69980554 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.69980554G>A?assembly=hg19",
        "id": "chr12:g.69980554G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.69586774G>A?assembly=hg38",
        "id": "chr12:g.69586774G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747763186",
        "rs": 747763186
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-69980554-G-A?dataset=gnomad_r2_1",
        "id": "12-69980554-G-A",
        "variant": "12:69980554 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-69586774-G-A?dataset=gnomad_r3",
        "id": "12-69586774-G-A",
        "variant": "12:69586774 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-69586774-G-A?dataset=gnomad_r4",
        "id": "12-69586774-G-A",
        "variant": "12:69586774 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 69586774,
          "referenceAllele": "G",
          "start": 69586773
        }
      ],
      "hgvs": [
        "NC_000012.12:g.69586774G>A",
        "CM000674.2:g.69586774G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 69980554,
          "referenceAllele": "G",
          "start": 69980553
        }
      ],
      "hgvs": [
        "NC_000012.11:g.69980554G>A",
        "CM000674.1:g.69980554G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 68266821,
          "referenceAllele": "G",
          "start": 68266820
        }
      ],
      "hgvs": [
        "NC_000012.10:g.68266821G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000299300.11:c.100G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299300.6:p.Ala34Thr",
        "hgvsWellDefined": "ENSP00000299300.6:p.Ala34Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744660",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299300.11:c.100G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006431.3:c.100G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299300.6:p.Ala34Thr"
          },
          "RefSeq": {
            "hgvs": "NP_006422.1:p.Ala34Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000299300.10:c.100G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299300.6:p.Ala34Thr",
        "hgvsWellDefined": "ENSP00000299300.6:p.Ala34Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000543146.2:c.-42G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445471.2:n.-42G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 162,
          "referenceAllele": "G",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000544368.6:c.100G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441847.2:p.Ala34Thr",
        "hgvsWellDefined": "ENSP00000441847.2:p.Ala34Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000546859.5:n.196G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000549933.5:n.163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000550010.5:c.100G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450153.1:p.Ala34Thr",
        "hgvsWellDefined": "ENSP00000450153.1:p.Ala34Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000550455.5:n.163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000550638.5:n.163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000551620.5:n.163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "ENST00000551899.5:n.421G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "NM_001198842.1:c.-42G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185771.1:n.-42G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573250924",
      "coordinates": [
        {
          "allele": "A",
          "end": 194,
          "referenceAllele": "G",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "NM_006431.2:c.100G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006422.1:p.Ala34Thr",
        "hgvsWellDefined": "NP_006422.1:p.Ala34Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031446"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573250924",
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "NM_006431.3:c.100G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006422.1:p.Ala34Thr",
        "hgvsWellDefined": "NP_006422.1:p.Ala34Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299300.11:c.100G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006431.3:c.100G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299300.6:p.Ala34Thr"
          },
          "RefSeq": {
            "hgvs": "NP_006422.1:p.Ala34Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "referenceAllele": "G",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001615",
      "geneNCBI_id": 10576,
      "geneSymbol": "CCT2",
      "hgvs": [
        "NM_001198842.2:c.-42G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185771.1:n.-42G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679441"
    }
  ],
  "type": "nucleotide"
}