{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA281080",
  "communityStandardTitle": [
    "NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32237[alleleid]",
        "alleleId": 32237,
        "preferredName": "NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17198",
        "RCV": [
          "RCV000018738",
          "RCV002513108"
        ],
        "variationId": 17198
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-189907903-C-G",
        "id": "2-189907903-C-G",
        "variant": "2:189907903 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189907903C>G?assembly=hg19",
        "id": "chr2:g.189907903C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189043177C>G?assembly=hg38",
        "id": "chr2:g.189043177C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912930",
        "rs": 121912930
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-189907903-C-G?dataset=gnomad_r2_1",
        "id": "2-189907903-C-G",
        "variant": "2:189907903 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189043177,
          "referenceAllele": "C",
          "start": 189043176
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189043177C>G",
        "CM000664.2:g.189043177C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189907903,
          "referenceAllele": "C",
          "start": 189907902
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189907903C>G",
        "CM000664.1:g.189907903C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189616148,
          "referenceAllele": "C",
          "start": 189616147
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189616148C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141703,
          "referenceAllele": "G",
          "start": 141702
        }
      ],
      "hgvs": [
        "NG_011799.1:g.141703G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141703,
          "referenceAllele": "G",
          "start": 141702
        }
      ],
      "hgvs": [
        "NG_011799.2:g.141703G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 187125,
          "referenceAllele": "G",
          "start": 187124
        }
      ],
      "hgvs": [
        "NG_011799.3:g.187125G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706104"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3602,
          "referenceAllele": "G",
          "start": 3601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000374866.9:c.3445G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364000.3:p.Gly1149Arg",
        "hgvsWellDefined": "ENSP00000364000.3:p.Gly1149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751513",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374866.9:c.3445G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000393.5:c.3445G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364000.3:p.Gly1149Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000384.2:p.Gly1149Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3720,
          "referenceAllele": "G",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000374866.7:c.3445G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364000.3:p.Gly1149Arg",
        "hgvsWellDefined": "ENSP00000364000.3:p.Gly1149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3189,
          "referenceAllele": "G",
          "start": 3188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000618828.1:c.2284G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482184.1:p.Gly762Arg",
        "hgvsWellDefined": "ENSP00000482184.1:p.Gly762Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281081",
      "coordinates": [
        {
          "allele": "C",
          "end": 3720,
          "referenceAllele": "G",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.3:c.3445G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:p.Gly1149Arg",
        "hgvsWellDefined": "NP_000384.2:p.Gly1149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3515,
          "referenceAllele": "G",
          "start": 3514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "XM_011510573.1:c.3307G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508875.1:p.Gly1103Arg",
        "hgvsWellDefined": "XP_011508875.1:p.Gly1103Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281081",
      "coordinates": [
        {
          "allele": "C",
          "end": 3720,
          "referenceAllele": "G",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.4:c.3445G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:p.Gly1149Arg",
        "hgvsWellDefined": "NP_000384.2:p.Gly1149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3502,
          "referenceAllele": "G",
          "start": 3501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "XM_011510573.3:c.3307G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508875.1:p.Gly1103Arg",
        "hgvsWellDefined": "XP_011508875.1:p.Gly1103Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281081",
      "coordinates": [
        {
          "allele": "C",
          "end": 3602,
          "referenceAllele": "G",
          "start": 3601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.5:c.3445G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:p.Gly1149Arg",
        "hgvsWellDefined": "NP_000384.2:p.Gly1149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374866.9:c.3445G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000393.5:c.3445G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364000.3:p.Gly1149Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000384.2:p.Gly1149Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}