{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3174440620",
  "communityStandardTitle": [
    "NM_007373.4(SHOC2):c.517A= (p.Met173=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518206",
        "rs": 1057518206
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 110964875,
          "referenceAllele": "A",
          "start": 110964874
        }
      ],
      "hgvs": [
        "NC_000010.11:g.110964875A=",
        "CM000672.2:g.110964875A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 112724633,
          "referenceAllele": "A",
          "start": 112724632
        }
      ],
      "hgvs": [
        "NC_000010.10:g.112724633A=",
        "CM000672.1:g.112724633A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 112714623,
          "referenceAllele": "A",
          "start": 112714622
        }
      ],
      "hgvs": [
        "NC_000010.9:g.112714623A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50333,
          "referenceAllele": "A",
          "start": 50332
        }
      ],
      "hgvs": [
        "NG_028922.1:g.50333A=",
        "LRG_753:g.50333A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004185"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000265277.10:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265277.5:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69,
          "endIntronDirection": "-",
          "endIntronOffset": 35539,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "-",
          "startIntronOffset": 35540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000451838.2:c.-242-35540A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408275.2:n.-242-35540A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "referenceAllele": "A",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000480155.2:n.753A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "referenceAllele": "A",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000685059.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510210.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "A",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000685613.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510564.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "A",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000687592.1:n.816A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000688928.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509273.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "referenceAllele": "A",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000689118.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510554.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "referenceAllele": "A",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000689300.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510639.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 83,
          "endIntronDirection": "-",
          "endIntronOffset": 20752,
          "referenceAllele": "A",
          "start": 83,
          "startIntronDirection": "-",
          "startIntronOffset": 20753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000689997.1:c.-380-20753A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510700.1:n.-380-20753A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000691151.1:n.809A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "referenceAllele": "A",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000691369.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509754.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "A",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000691441.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509686.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "A",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000691903.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510314.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 818,
          "referenceAllele": "A",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000692776.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508524.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000369452.9:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358464.5:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369452.9:c.517A="
          },
          "RefSeq": {
            "hgvs": "NM_007373.4:c.517A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358464.5:p.Met173="
          },
          "RefSeq": {
            "hgvs": "NP_031399.2:p.Met173="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "A",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000265277.9:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265277.5:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000369452.8:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358464.4:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25,
          "referenceAllele": "A",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000451838.1:c.25A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408275.1:p.Met9="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55,
          "endIntronDirection": "-",
          "endIntronOffset": 35539,
          "referenceAllele": "A",
          "start": 55,
          "startIntronDirection": "-",
          "startIntronOffset": 35540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "ENST00000489390.1:n.56-35540A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "A",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NM_001269039.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001255968.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076804462",
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "referenceAllele": "A",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NM_007373.3:c.517A=",
        "LRG_753t1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "NP_031399.2:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "endIntronDirection": "-",
          "endIntronOffset": 20752,
          "referenceAllele": "A",
          "start": 87,
          "startIntronDirection": "-",
          "startIntronOffset": 20753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "XM_011540216.1:c.-380-20753A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538518.1:n.-380-20753A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "referenceAllele": "A",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NM_001269039.2:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001255968.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NM_001324336.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001311265.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "A",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NM_001324337.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001311266.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 115,
          "endIntronDirection": "-",
          "endIntronOffset": 20752,
          "referenceAllele": "A",
          "start": 115,
          "startIntronDirection": "-",
          "startIntronOffset": 20753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NR_136749.1:n.116-20753A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076804462",
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NM_007373.4:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "NP_031399.2:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369452.9:c.517A="
          },
          "RefSeq": {
            "hgvs": "NM_007373.4:c.517A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358464.5:p.Met173="
          },
          "RefSeq": {
            "hgvs": "NP_031399.2:p.Met173="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NM_001269039.3:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001255968.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NM_001324336.2:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001311265.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "A",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NM_001324337.2:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001311266.1:p.Met173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54,
          "endIntronDirection": "-",
          "endIntronOffset": 20752,
          "referenceAllele": "A",
          "start": 54,
          "startIntronDirection": "-",
          "startIntronOffset": 20753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
        "NR_136749.2:n.55-20753A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731040"
    }
  ],
  "type": "nucleotide"
}