{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411809889",
  "communityStandardTitle": [
    "NM_001184970.3(PACSIN2):c.1360A>T (p.Thr454Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.43267464T>A?assembly=hg19",
        "id": "chr22:g.43267464T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42871458T>A?assembly=hg38",
        "id": "chr22:g.42871458T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2517954468",
        "rs": 2517954468
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42871458-T-A?dataset=gnomad_r4",
        "id": "22-42871458-T-A",
        "variant": "22:42871458 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 42871458,
          "referenceAllele": "T",
          "start": 42871457
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42871458T>A",
        "CM000684.2:g.42871458T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 43267464,
          "referenceAllele": "T",
          "start": 43267463
        }
      ],
      "hgvs": [
        "NC_000022.10:g.43267464T>A",
        "CM000684.1:g.43267464T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 41597408,
          "referenceAllele": "T",
          "start": 41597407
        }
      ],
      "hgvs": [
        "NC_000022.9:g.41597408T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1566,
          "referenceAllele": "A",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "ENST00000263246.8:c.1360A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263246.3:p.Thr454Ser",
        "hgvsWellDefined": "ENSP00000263246.3:p.Thr454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742479",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263246.8:c.1360A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001184970.3:c.1360A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263246.3:p.Thr454Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001171899.1:p.Thr454Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1562,
          "referenceAllele": "A",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "ENST00000263246.7:c.1360A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263246.3:p.Thr454Ser",
        "hgvsWellDefined": "ENSP00000263246.3:p.Thr454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1459,
          "referenceAllele": "A",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "ENST00000337959.8:c.1237A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338379.4:p.Thr413Ser",
        "hgvsWellDefined": "ENSP00000338379.4:p.Thr413Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1553,
          "referenceAllele": "A",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "ENST00000402229.5:c.1360A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385040.1:p.Thr454Ser",
        "hgvsWellDefined": "ENSP00000385040.1:p.Thr454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "A",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "ENST00000403744.7:c.1360A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385372.3:p.Thr454Ser",
        "hgvsWellDefined": "ENSP00000385372.3:p.Thr454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "A",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "ENST00000407585.5:c.1237A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385952.1:p.Thr413Ser",
        "hgvsWellDefined": "ENSP00000385952.1:p.Thr413Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 71,
          "endIntronDirection": "+",
          "endIntronOffset": 4679,
          "referenceAllele": "A",
          "start": 71,
          "startIntronDirection": "+",
          "startIntronOffset": 4678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "ENST00000507586.1:c.71+4679A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151673",
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "A",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001184970.1:c.1360A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171899.1:p.Thr454Ser",
        "hgvsWellDefined": "NP_001171899.1:p.Thr454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151695",
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "A",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001184971.1:c.1237A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171900.1:p.Thr413Ser",
        "hgvsWellDefined": "NP_001171900.1:p.Thr413Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829702990",
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "A",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_007229.3:c.1360A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009160.2:p.Thr454Ser",
        "hgvsWellDefined": "NP_009160.2:p.Thr454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1984,
          "referenceAllele": "A",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_005261319.3:c.1237A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261376.1:p.Thr413Ser",
        "hgvsWellDefined": "XP_005261376.1:p.Thr413Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "A",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529846.1:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528148.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011528148.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1536,
          "referenceAllele": "A",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529847.1:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528149.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011528149.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "A",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529848.1:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528150.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011528150.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1532,
          "referenceAllele": "A",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529849.1:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528151.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011528151.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529850.1:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528152.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011528152.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "A",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529851.1:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528153.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011528153.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1976,
          "referenceAllele": "A",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529852.1:c.1243A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528154.1:p.Thr415Ser",
        "hgvsWellDefined": "XP_011528154.1:p.Thr415Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1990,
          "referenceAllele": "A",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529853.1:c.1243A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528155.1:p.Thr415Ser",
        "hgvsWellDefined": "XP_011528155.1:p.Thr415Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45,
          "referenceAllele": "T",
          "start": 44
        }
      ],
      "hgvs": [
        "XR_244440.2:n.45T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151673",
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "A",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001184970.2:c.1360A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171899.1:p.Thr454Ser",
        "hgvsWellDefined": "NP_001171899.1:p.Thr454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827479079",
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "A",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349968.1:c.1243A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336897.1:p.Thr415Ser",
        "hgvsWellDefined": "NP_001336897.1:p.Thr415Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827479130",
      "coordinates": [
        {
          "allele": "T",
          "end": 1599,
          "referenceAllele": "A",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349969.1:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336898.1:p.Thr456Ser",
        "hgvsWellDefined": "NP_001336898.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580213087",
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "A",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349970.1:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336899.1:p.Thr456Ser",
        "hgvsWellDefined": "NP_001336899.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827479215",
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "A",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349971.1:c.1243A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336900.1:p.Thr415Ser",
        "hgvsWellDefined": "NP_001336900.1:p.Thr415Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827479258",
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "A",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349972.1:c.1243A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336901.1:p.Thr415Ser",
        "hgvsWellDefined": "NP_001336901.1:p.Thr415Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827479300",
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "A",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349973.1:c.1243A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336902.1:p.Thr415Ser",
        "hgvsWellDefined": "NP_001336902.1:p.Thr415Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827479344",
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "A",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349974.1:c.1120A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336903.1:p.Thr374Ser",
        "hgvsWellDefined": "NP_001336903.1:p.Thr374Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2468,
          "referenceAllele": "A",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_005261319.4:c.1237A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261376.1:p.Thr413Ser",
        "hgvsWellDefined": "XP_005261376.1:p.Thr413Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "A",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529847.3:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528149.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011528149.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1550,
          "referenceAllele": "A",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529848.2:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528150.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011528150.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "A",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529849.3:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528151.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011528151.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1927,
          "referenceAllele": "A",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529850.3:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528152.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_011528152.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2460,
          "referenceAllele": "A",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_011529852.2:c.1243A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528154.1:p.Thr415Ser",
        "hgvsWellDefined": "XP_011528154.1:p.Thr415Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "A",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_017028562.2:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884051.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_016884051.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "A",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_017028563.1:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884052.1:p.Thr456Ser",
        "hgvsWellDefined": "XP_016884052.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "A",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "XM_017028564.2:c.1360A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884053.1:p.Thr454Ser",
        "hgvsWellDefined": "XP_016884053.1:p.Thr454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45,
          "referenceAllele": "T",
          "start": 44
        }
      ],
      "hgvs": [
        "XR_001755575.1:n.45T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "hgvs": [
        "XR_244440.3:n.184T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606094"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151673",
      "coordinates": [
        {
          "allele": "T",
          "end": 1566,
          "referenceAllele": "A",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001184970.3:c.1360A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171899.1:p.Thr454Ser",
        "hgvsWellDefined": "NP_001171899.1:p.Thr454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263246.8:c.1360A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001184970.3:c.1360A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263246.3:p.Thr454Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001171899.1:p.Thr454Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827479130",
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "referenceAllele": "A",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349969.2:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336898.1:p.Thr456Ser",
        "hgvsWellDefined": "NP_001336898.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580213087",
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "A",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349970.2:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336899.1:p.Thr456Ser",
        "hgvsWellDefined": "NP_001336899.1:p.Thr456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827479215",
      "coordinates": [
        {
          "allele": "T",
          "end": 1449,
          "referenceAllele": "A",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349971.2:c.1243A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336900.1:p.Thr415Ser",
        "hgvsWellDefined": "NP_001336900.1:p.Thr415Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827479344",
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "A",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NM_001349974.2:c.1120A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336903.1:p.Thr374Ser",
        "hgvsWellDefined": "NP_001336903.1:p.Thr374Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719459"
    }
  ],
  "type": "nucleotide"
}