{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351218283",
  "communityStandardTitle": [
    "NM_004369.4(COL6A3):c.1393C>G (p.Arg465Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.238290062G>C?assembly=hg19",
        "id": "chr2:g.238290062G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.237381419G>C?assembly=hg38",
        "id": "chr2:g.237381419G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434554",
        "rs": 121434554
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-237381419-G-C?dataset=gnomad_r4",
        "id": "2-237381419-G-C",
        "variant": "2:237381419 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 237381419,
          "referenceAllele": "G",
          "start": 237381418
        }
      ],
      "hgvs": [
        "NC_000002.12:g.237381419G>C",
        "CM000664.2:g.237381419G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 238290062,
          "referenceAllele": "G",
          "start": 238290061
        }
      ],
      "hgvs": [
        "NC_000002.11:g.238290062G>C",
        "CM000664.1:g.238290062G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 237954801,
          "referenceAllele": "G",
          "start": 237954800
        }
      ],
      "hgvs": [
        "NC_000002.10:g.237954801G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37789,
          "referenceAllele": "C",
          "start": 37788
        }
      ],
      "hgvs": [
        "NG_008676.1:g.37789C>G",
        "LRG_473:g.37789C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001161"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.9:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Arg259Gly",
        "hgvsWellDefined": "ENSP00000315873.4:p.Arg259Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166,
          "referenceAllele": "C",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000682405.1:n.166C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.9:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Arg465Gly",
        "hgvsWellDefined": "ENSP00000295550.4:p.Arg465Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.1393C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.1393C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Arg465Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Arg465Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1846,
          "referenceAllele": "C",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.8:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Arg465Gly",
        "hgvsWellDefined": "ENSP00000295550.4:p.Arg465Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000347401.7:c.172C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315609.4:p.Arg58Gly",
        "hgvsWellDefined": "ENSP00000315609.4:p.Arg58Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.8:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Arg259Gly",
        "hgvsWellDefined": "ENSP00000315873.4:p.Arg259Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000392003.6:c.172C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375860.2:p.Arg58Gly",
        "hgvsWellDefined": "ENSP00000375860.2:p.Arg58Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000392004.7:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375861.3:p.Arg259Gly",
        "hgvsWellDefined": "ENSP00000375861.3:p.Arg259Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000409809.5:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386844.1:p.Arg259Gly",
        "hgvsWellDefined": "ENSP00000386844.1:p.Arg259Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000433762.1:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389539.1:p.Arg465Gly",
        "hgvsWellDefined": "ENSP00000389539.1:p.Arg465Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000472056.5:c.172C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418285.1:p.Arg58Gly",
        "hgvsWellDefined": "ENSP00000418285.1:p.Arg58Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1678,
          "referenceAllele": "C",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.3:c.1393C>G",
        "LRG_473t1:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Arg465Gly",
        "hgvsWellDefined": "NP_004360.2:p.Arg465Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057164.4:c.172C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476505.3:p.Arg58Gly",
        "hgvsWellDefined": "NP_476505.3:p.Arg58Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057165.4:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476506.3:p.Arg259Gly",
        "hgvsWellDefined": "NP_476506.3:p.Arg259Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526883",
      "coordinates": [
        {
          "allele": "G",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.4:c.172C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:p.Arg58Gly",
        "hgvsWellDefined": "NP_476507.3:p.Arg58Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.3:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Arg259Gly",
        "hgvsWellDefined": "NP_476508.2:p.Arg259Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246065.1:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246122.1:p.Arg465Gly",
        "hgvsWellDefined": "XP_005246122.1:p.Arg465Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246066.1:c.172C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246123.1:p.Arg58Gly",
        "hgvsWellDefined": "XP_005246123.1:p.Arg58Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_006712253.1:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712316.1:p.Arg465Gly",
        "hgvsWellDefined": "XP_006712316.1:p.Arg465Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510574.1:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508876.1:p.Arg465Gly",
        "hgvsWellDefined": "XP_011508876.1:p.Arg465Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 539,
          "endIntronDirection": "-",
          "endIntronOffset": 4074,
          "referenceAllele": "C",
          "start": 539,
          "startIntronDirection": "-",
          "startIntronOffset": 4075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510575.1:c.92-4075C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508877.1:n.92-4075C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1001,
          "endIntronDirection": "-",
          "endIntronOffset": 4074,
          "referenceAllele": "C",
          "start": 1001,
          "startIntronDirection": "-",
          "startIntronOffset": 4075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_017003304.1:c.92-4075C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858793.1:n.92-4075C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_024452684.1:c.172C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308452.1:p.Arg58Gly",
        "hgvsWellDefined": "XP_024308452.1:p.Arg58Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.4:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Arg465Gly",
        "hgvsWellDefined": "NP_004360.2:p.Arg465Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.1393C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.1393C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Arg465Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Arg465Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057164.5:c.172C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476505.3:p.Arg58Gly",
        "hgvsWellDefined": "NP_476505.3:p.Arg58Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057165.5:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476506.3:p.Arg259Gly",
        "hgvsWellDefined": "NP_476506.3:p.Arg259Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526883",
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.5:c.172C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:p.Arg58Gly",
        "hgvsWellDefined": "NP_476507.3:p.Arg58Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.4:c.775C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Arg259Gly",
        "hgvsWellDefined": "NP_476508.2:p.Arg259Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729011"
    }
  ],
  "type": "nucleotide"
}