{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA200149",
  "communityStandardTitle": [
    "NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6030249",
        "active": true,
        "id": "COSM6030249"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190064[alleleid]",
        "alleleId": 190064,
        "preferredName": "NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/192264",
        "RCV": [
          "RCV000172852",
          "RCV000389218",
          "RCV001372713"
        ],
        "variationId": 192264
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-238253159-C-T",
        "id": "2-238253159-C-T",
        "variant": "2:238253159 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.238253159C>T?assembly=hg19",
        "id": "chr2:g.238253159C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.237344516C>T?assembly=hg38",
        "id": "chr2:g.237344516C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/541928674",
        "rs": 541928674
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-238253159-C-T?dataset=gnomad_r2_1",
        "id": "2-238253159-C-T",
        "variant": "2:238253159 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-237344516-C-T?dataset=gnomad_r3",
        "id": "2-237344516-C-T",
        "variant": "2:237344516 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-237344516-C-T?dataset=gnomad_r4",
        "id": "2-237344516-C-T",
        "variant": "2:237344516 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 237344516,
          "referenceAllele": "C",
          "start": 237344515
        }
      ],
      "hgvs": [
        "NC_000002.12:g.237344516C>T",
        "CM000664.2:g.237344516C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 238253159,
          "referenceAllele": "C",
          "start": 238253158
        }
      ],
      "hgvs": [
        "NC_000002.11:g.238253159C>T",
        "CM000664.1:g.238253159C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 237917898,
          "referenceAllele": "C",
          "start": 237917897
        }
      ],
      "hgvs": [
        "NC_000002.10:g.237917898C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74692,
          "referenceAllele": "G",
          "start": 74691
        }
      ],
      "hgvs": [
        "NG_008676.1:g.74692G>A",
        "LRG_473:g.74692G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001161"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000347401.8:c.147G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7134,
          "referenceAllele": "G",
          "start": 7133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.9:c.6884G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Arg2295His",
        "hgvsWellDefined": "ENSP00000315873.4:p.Arg2295His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7744,
          "referenceAllele": "G",
          "start": 7743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.9:c.7502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Arg2501His",
        "hgvsWellDefined": "ENSP00000295550.4:p.Arg2501His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.7502G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.7502G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Arg2501His"
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Arg2501His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7955,
          "referenceAllele": "G",
          "start": 7954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.8:c.7502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Arg2501His",
        "hgvsWellDefined": "ENSP00000295550.4:p.Arg2501His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5904,
          "referenceAllele": "G",
          "start": 5903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000347401.7:c.5678G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315609.4:p.Arg1893His",
        "hgvsWellDefined": "ENSP00000315609.4:p.Arg1893His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7169,
          "referenceAllele": "G",
          "start": 7168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.8:c.6884G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Arg2295His",
        "hgvsWellDefined": "ENSP00000315873.4:p.Arg2295His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6884,
          "referenceAllele": "G",
          "start": 6883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000409809.5:c.6884G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386844.1:p.Arg2295His",
        "hgvsWellDefined": "ENSP00000386844.1:p.Arg2295His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5907,
          "referenceAllele": "G",
          "start": 5906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000472056.5:c.5681G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418285.1:p.Arg1894His",
        "hgvsWellDefined": "ENSP00000418285.1:p.Arg1894His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1756,
          "referenceAllele": "G",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000491769.1:n.1756G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA200151",
      "coordinates": [
        {
          "allele": "A",
          "end": 7787,
          "referenceAllele": "G",
          "start": 7786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.3:c.7502G>A",
        "LRG_473t1:c.7502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Arg2501His",
        "hgvsWellDefined": "NP_004360.2:p.Arg2501His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830148155",
      "coordinates": [
        {
          "allele": "A",
          "end": 5966,
          "referenceAllele": "G",
          "start": 5965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.4:c.5681G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:p.Arg1894His",
        "hgvsWellDefined": "NP_476507.3:p.Arg1894His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830150436",
      "coordinates": [
        {
          "allele": "A",
          "end": 7169,
          "referenceAllele": "G",
          "start": 7168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.3:c.6884G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Arg2295His",
        "hgvsWellDefined": "NP_476508.2:p.Arg2295His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7144,
          "referenceAllele": "G",
          "start": 7143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246065.1:c.6902G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246122.1:p.Arg2301His",
        "hgvsWellDefined": "XP_005246122.1:p.Arg2301His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6290,
          "referenceAllele": "G",
          "start": 6289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246066.1:c.6281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246123.1:p.Arg2094His",
        "hgvsWellDefined": "XP_005246123.1:p.Arg2094His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7243,
          "referenceAllele": "G",
          "start": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_006712253.1:c.7001G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712316.1:p.Arg2334His",
        "hgvsWellDefined": "XP_006712316.1:p.Arg2334His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7741,
          "referenceAllele": "G",
          "start": 7740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510574.1:c.7499G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508876.1:p.Arg2500His",
        "hgvsWellDefined": "XP_011508876.1:p.Arg2500His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5544,
          "referenceAllele": "G",
          "start": 5543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510575.1:c.5096G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508877.1:p.Arg1699His",
        "hgvsWellDefined": "XP_011508877.1:p.Arg1699His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6006,
          "referenceAllele": "G",
          "start": 6005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_017003304.1:c.5096G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858793.1:p.Arg1699His",
        "hgvsWellDefined": "XP_016858793.1:p.Arg1699His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6492,
          "referenceAllele": "G",
          "start": 6491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_024452684.1:c.6281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308452.1:p.Arg2094His",
        "hgvsWellDefined": "XP_024308452.1:p.Arg2094His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA200151",
      "coordinates": [
        {
          "allele": "A",
          "end": 7744,
          "referenceAllele": "G",
          "start": 7743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.4:c.7502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Arg2501His",
        "hgvsWellDefined": "NP_004360.2:p.Arg2501His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.7502G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.7502G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Arg2501His"
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Arg2501His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830148155",
      "coordinates": [
        {
          "allele": "A",
          "end": 5923,
          "referenceAllele": "G",
          "start": 5922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.5:c.5681G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:p.Arg1894His",
        "hgvsWellDefined": "NP_476507.3:p.Arg1894His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830150436",
      "coordinates": [
        {
          "allele": "A",
          "end": 7126,
          "referenceAllele": "G",
          "start": 7125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.4:c.6884G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Arg2295His",
        "hgvsWellDefined": "NP_476508.2:p.Arg2295His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729011"
    }
  ],
  "type": "nucleotide"
}