{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA325060",
  "communityStandardTitle": [
    "NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3575457",
        "active": true,
        "id": "COSM3575457"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209516[alleleid]",
        "alleleId": 209516,
        "preferredName": "NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213118",
        "RCV": [
          "RCV000200482",
          "RCV002229093",
          "RCV003458353"
        ],
        "variationId": 213118
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189907957C>T?assembly=hg19",
        "id": "chr2:g.189907957C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189043231C>T?assembly=hg38",
        "id": "chr2:g.189043231C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747946828",
        "rs": 747946828
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 189043231,
          "referenceAllele": "C",
          "start": 189043230
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189043231C>T",
        "CM000664.2:g.189043231C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 189907957,
          "referenceAllele": "C",
          "start": 189907956
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189907957C>T",
        "CM000664.1:g.189907957C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 189616202,
          "referenceAllele": "C",
          "start": 189616201
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189616202C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141649,
          "referenceAllele": "G",
          "start": 141648
        }
      ],
      "hgvs": [
        "NG_011799.1:g.141649G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141649,
          "referenceAllele": "G",
          "start": 141648
        }
      ],
      "hgvs": [
        "NG_011799.2:g.141649G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 187071,
          "referenceAllele": "G",
          "start": 187070
        }
      ],
      "hgvs": [
        "NG_011799.3:g.187071G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706104"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3548,
          "referenceAllele": "G",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000374866.9:c.3391G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364000.3:p.Gly1131Ser",
        "hgvsWellDefined": "ENSP00000364000.3:p.Gly1131Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751513",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374866.9:c.3391G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000393.5:c.3391G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364000.3:p.Gly1131Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000384.2:p.Gly1131Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000374866.7:c.3391G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364000.3:p.Gly1131Ser",
        "hgvsWellDefined": "ENSP00000364000.3:p.Gly1131Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3135,
          "referenceAllele": "G",
          "start": 3134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000618828.1:c.2230G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482184.1:p.Gly744Ser",
        "hgvsWellDefined": "ENSP00000482184.1:p.Gly744Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA325061",
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.3:c.3391G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:p.Gly1131Ser",
        "hgvsWellDefined": "NP_000384.2:p.Gly1131Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3461,
          "referenceAllele": "G",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "XM_011510573.1:c.3253G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508875.1:p.Gly1085Ser",
        "hgvsWellDefined": "XP_011508875.1:p.Gly1085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA325061",
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.4:c.3391G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:p.Gly1131Ser",
        "hgvsWellDefined": "NP_000384.2:p.Gly1131Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3448,
          "referenceAllele": "G",
          "start": 3447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "XM_011510573.3:c.3253G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508875.1:p.Gly1085Ser",
        "hgvsWellDefined": "XP_011508875.1:p.Gly1085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA325061",
      "coordinates": [
        {
          "allele": "A",
          "end": 3548,
          "referenceAllele": "G",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.5:c.3391G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:p.Gly1131Ser",
        "hgvsWellDefined": "NP_000384.2:p.Gly1131Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374866.9:c.3391G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000393.5:c.3391G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364000.3:p.Gly1131Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000384.2:p.Gly1131Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}