{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007043",
  "communityStandardTitle": [
    "NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5837427",
        "active": true,
        "id": "COSM5837427"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197393[alleleid]",
        "alleleId": 197393,
        "preferredName": "NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199675",
        "RCV": [
          "RCV000181028",
          "RCV000707415",
          "RCV001170188"
        ],
        "variationId": 199675
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.90699264C>T?assembly=hg19",
        "id": "chr10:g.90699264C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.88939507C>T?assembly=hg38",
        "id": "chr10:g.88939507C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728028",
        "rs": 794728028
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-90699264-C-T?dataset=gnomad_r2_1",
        "id": "10-90699264-C-T",
        "variant": "10:90699264 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-88939507-C-T?dataset=gnomad_r4",
        "id": "10-88939507-C-T",
        "variant": "10:88939507 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 88939507,
          "referenceAllele": "C",
          "start": 88939506
        }
      ],
      "hgvs": [
        "NC_000010.11:g.88939507C>T",
        "CM000672.2:g.88939507C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 90699264,
          "referenceAllele": "C",
          "start": 90699263
        }
      ],
      "hgvs": [
        "NC_000010.10:g.90699264C>T",
        "CM000672.1:g.90699264C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 90689244,
          "referenceAllele": "C",
          "start": 90689243
        }
      ],
      "hgvs": [
        "NC_000010.9:g.90689244C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56884,
          "referenceAllele": "G",
          "start": 56883
        }
      ],
      "hgvs": [
        "NG_011541.1:g.56884G>A",
        "LRG_781:g.56884G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "G",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000415557.2:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396730.2:p.Gly270Arg",
        "hgvsWellDefined": "ENSP00000396730.2:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "G",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458159.6:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398239.2:p.Gly270Arg",
        "hgvsWellDefined": "ENSP00000398239.2:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2404,
          "referenceAllele": "G",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000480297.6:n.2404G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000224784.10:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224784.6:p.Gly270Arg",
        "hgvsWellDefined": "ENSP00000224784.6:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224784.10:c.808G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001613.4:c.808G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224784.6:p.Gly270Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001604.1:p.Gly270Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2212,
          "endIntronDirection": "+",
          "endIntronOffset": 17071,
          "referenceAllele": "C",
          "start": 2212,
          "startIntronDirection": "+",
          "startIntronOffset": 17070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024105",
      "geneNCBI_id": 57559,
      "geneSymbol": "STAMBPL1",
      "hgvs": [
        "ENST00000371927.7:c.1254+17071C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360995.3:n.1254+17071C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458208.5:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402373.1:p.Gly270Arg",
        "hgvsWellDefined": "ENSP00000402373.1:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303658",
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001141945.1:c.808G>A",
        "LRG_781t2:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135417.1:p.Gly270Arg",
        "hgvsWellDefined": "NP_001135417.1:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303659",
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.2:c.808G>A",
        "LRG_781t1:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Gly270Arg",
        "hgvsWellDefined": "NP_001604.1:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN045169",
      "geneNCBI_id": 100132116,
      "geneSymbol": "ACTA2-AS1",
      "hgvs": [
        "NR_125373.1:n.1576C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
          "referenceAllele": "G",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "XM_011540016.1:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538318.1:p.Gly270Arg",
        "hgvsWellDefined": "XP_011538318.1:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106966"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303658",
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001141945.2:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135417.1:p.Gly270Arg",
        "hgvsWellDefined": "NP_001135417.1:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827058138",
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001320855.1:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307784.1:p.Gly270Arg",
        "hgvsWellDefined": "NP_001307784.1:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303659",
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.3:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Gly270Arg",
        "hgvsWellDefined": "NP_001604.1:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303659",
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.4:c.808G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Gly270Arg",
        "hgvsWellDefined": "NP_001604.1:p.Gly270Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665061",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224784.10:c.808G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001613.4:c.808G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224784.6:p.Gly270Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001604.1:p.Gly270Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}