{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2832585310", "communityStandardTitle": [ "NM_001148.6(ANK2):c.11791G= (p.Glu3931=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/45454496", "rs": 45454496 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 113373381, "referenceAllele": "G", "start": 113373380 } ], "hgvs": [ "NC_000004.12:g.113373381G=", "CM000666.2:g.113373381G=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 114294537, "referenceAllele": "G", "start": 114294536 } ], "hgvs": [ "NC_000004.11:g.114294537G=", "CM000666.1:g.114294537G=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 114513986, "referenceAllele": "G", "start": 114513985 } ], "hgvs": [ "NC_000004.10:g.114513986G=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "G", "end": 560299, "referenceAllele": "G", "start": 560298 } ], "hgvs": [ "NG_009006.2:g.560299G=", "LRG_327:g.560299G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001374" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 12275, "referenceAllele": "G", "start": 12274 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000506344.6:c.12025G=" ], "proteinEffect": { "hgvs": "ENSP00000422888.2:p.Glu4009=" }, "referenceSequence": "http://reg.genome.network/refseq/RS905500" }, { "coordinates": [ { "allele": "G", "end": 5898, "referenceAllele": "G", "start": 5897 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000705785.1:c.5617G=" ], "proteinEffect": { "hgvs": "ENSP00000516169.1:p.Glu1873=" }, "referenceSequence": "http://reg.genome.network/refseq/RS912604" }, { "coordinates": [ { "allele": "G", "end": 2037, "endIntronDirection": "+", "endIntronOffset": 3576, "referenceAllele": "G", "start": 2037, "startIntronDirection": "+", "startIntronOffset": 3575 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000510275.8:c.2037+3576G=" ], "proteinEffect": { "hgvs": "ENSP00000421023.4:n.2037+3576G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825565" }, { "coordinates": [ { "allele": "G", "end": 2716, "referenceAllele": "G", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000612754.2:c.2716G=" ], "proteinEffect": { "hgvs": "ENSP00000482888.2:p.Glu906=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826428" }, { "coordinates": [ { "allele": "G", "end": 3173, "referenceAllele": "G", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000681990.1:n.3173G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS826990" }, { "coordinates": [ { "allele": "G", "end": 2381, "referenceAllele": "G", "start": 2380 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000682049.1:n.2381G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS827047" }, { "coordinates": [ { "allele": "G", "end": 6409, "referenceAllele": "G", "start": 6408 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000682959.1:n.6409G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS827947" }, { "coordinates": [ { "allele": "G", "end": 1954, "referenceAllele": "G", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000683389.1:n.1954G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS828368" }, { "coordinates": [ { "allele": "G", "end": 2594, "referenceAllele": "G", "start": 2593 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000683777.1:n.2594G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS828748" }, { "coordinates": [ { "allele": "G", "end": 3735, "endIntronDirection": "+", "endIntronOffset": 3576, "referenceAllele": "G", "start": 3735, "startIntronDirection": "+", "startIntronOffset": 3575 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000683826.1:n.3735+3576G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS828794" }, { "coordinates": [ { "allele": "G", "end": 1897, "referenceAllele": "G", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000683893.1:n.1897G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS828859" }, { "coordinates": [ { "allele": "G", "end": 2290, "referenceAllele": "G", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000683908.1:n.2290G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS828874" }, { "coordinates": [ { "allele": "G", "end": 8636, "referenceAllele": "G", "start": 8635 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000683972.1:n.8636G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS828935" }, { "coordinates": [ { "allele": "G", "end": 3262, "referenceAllele": "G", "start": 3261 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000684225.1:n.3262G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS829182" }, { "coordinates": [ { "allele": "G", "end": 3472, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 3472, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000684230.1:n.3472+208G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS829187" }, { "coordinates": [ { "allele": "G", "end": 4530, "referenceAllele": "G", "start": 4529 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000684378.1:n.4530G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS829333" }, { "coordinates": [ { "allele": "G", "end": 3773, "referenceAllele": "G", "start": 3772 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000684470.1:n.3773G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS829424" }, { "coordinates": [ { "allele": "G", "end": 5179, "referenceAllele": "G", "start": 5178 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000684730.1:n.5179G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS829681" }, { "coordinates": [ { "allele": "G", "end": 11867, "referenceAllele": "G", "start": 11866 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000357077.9:c.11791G=" ], "proteinEffect": { "hgvs": "ENSP00000349588.4:p.Glu3931=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748888", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357077.9:c.11791G=" }, "RefSeq": { "hgvs": "NM_001148.6:c.11791G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349588.4:p.Glu3931=" }, "RefSeq": { "hgvs": "NP_001139.3:p.Glu3931=" } } } }, { "coordinates": [ { "allele": "G", "end": 11828, "referenceAllele": "G", "start": 11827 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000503423.6:c.11629G=" ], "proteinEffect": { "hgvs": "ENSP00000421011.2:p.Glu3877=" }, "referenceSequence": "http://reg.genome.network/refseq/RS757975" }, { "coordinates": [ { "allele": "G", "end": 3212, "referenceAllele": "G", "start": 3211 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000505342.6:c.2923G=" ], "proteinEffect": { "hgvs": "ENSP00000422498.2:p.Glu975=" }, "referenceSequence": "http://reg.genome.network/refseq/RS758050" }, { "coordinates": [ { "allele": "G", "end": 1605, "referenceAllele": "G", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000510275.7:c.1339G=" ], "proteinEffect": { "hgvs": "ENSP00000421023.3:p.Glu447=" }, "referenceSequence": "http://reg.genome.network/refseq/RS758208" }, { "coordinates": [ { "allele": "G", "end": 5505, "referenceAllele": "G", "start": 5504 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671704.1:c.5350G=" ], "proteinEffect": { "hgvs": "ENSP00000500926.1:p.Glu1784=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773150" }, { "coordinates": [ { "allele": "G", "end": 5737, "referenceAllele": "G", "start": 5736 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671727.1:c.5530G=" ], "proteinEffect": { "hgvs": "ENSP00000500102.1:p.Glu1844=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773153" }, { "coordinates": [ { "allele": "G", "end": 5476, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5476, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671756.1:c.5277+208G=" ], "proteinEffect": { "hgvs": "ENSP00000500712.1:n.5277+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773162" }, { "coordinates": [ { "allele": "G", "end": 5872, "referenceAllele": "G", "start": 5871 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671762.1:c.5665G=" ], "proteinEffect": { "hgvs": "ENSP00000500954.1:p.Glu1889=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773163" }, { "coordinates": [ { "allele": "G", "end": 5776, "referenceAllele": "G", "start": 5775 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671793.1:c.5566G=" ], "proteinEffect": { "hgvs": "ENSP00000499928.1:p.Glu1856=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773173" }, { "coordinates": [ { "allele": "G", "end": 11864, "referenceAllele": "G", "start": 11863 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671809.1:c.11665G=" ], "proteinEffect": { "hgvs": "ENSP00000500872.1:p.Glu3889=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773175" }, { "coordinates": [ { "allele": "G", "end": 5683, "referenceAllele": "G", "start": 5682 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671825.1:c.5473G=" ], "proteinEffect": { "hgvs": "ENSP00000500459.1:p.Glu1825=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773180" }, { "coordinates": [ { "allele": "G", "end": 5475, "referenceAllele": "G", "start": 5474 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671854.1:c.5275G=" ], "proteinEffect": { "hgvs": "ENSP00000500833.1:p.Glu1759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773186" }, { "coordinates": [ { "allele": "G", "end": 5551, "referenceAllele": "G", "start": 5550 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671863.1:c.*1029G=" ], "proteinEffect": { "hgvs": "ENSP00000500855.1:n.*1029G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773190" }, { "coordinates": [ { "allele": "G", "end": 11427, "endIntronDirection": "-", "endIntronOffset": 1382, "referenceAllele": "G", "start": 11427, "startIntronDirection": "-", "startIntronOffset": 1383 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671882.1:c.11428-1383G=" ], "proteinEffect": { "hgvs": "ENSP00000499887.1:n.11428-1383G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773199" }, { "coordinates": [ { "allele": "G", "end": 5254, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5254, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671893.1:c.5055+208G=" ], "proteinEffect": { "hgvs": "ENSP00000499986.1:n.5055+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773204" }, { "coordinates": [ { "allele": "G", "end": 11804, "referenceAllele": "G", "start": 11803 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671906.1:c.11605G=" ], "proteinEffect": { "hgvs": "ENSP00000499953.1:p.Glu3869=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773207" }, { "coordinates": [ { "allele": "G", "end": 5483, "referenceAllele": "G", "start": 5482 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671951.1:c.5251G=" ], "proteinEffect": { "hgvs": "ENSP00000500528.1:p.Glu1751=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773220" }, { "coordinates": [ { "allele": "G", "end": 12429, "referenceAllele": "G", "start": 12428 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671971.1:c.11836G=" ], "proteinEffect": { "hgvs": "ENSP00000499832.1:p.Glu3946=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773226" }, { "coordinates": [ { "allele": "G", "end": 5554, "referenceAllele": "G", "start": 5553 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672045.1:c.5374G=" ], "proteinEffect": { "hgvs": "ENSP00000499959.1:p.Glu1792=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773249" }, { "coordinates": [ { "allele": "G", "end": 11921, "referenceAllele": "G", "start": 11920 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672068.1:c.11722G=" ], "proteinEffect": { "hgvs": "ENSP00000499902.1:p.Glu3908=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773258" }, { "coordinates": [ { "allele": "G", "end": 5560, "referenceAllele": "G", "start": 5559 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672088.1:c.5350G=" ], "proteinEffect": { "hgvs": "ENSP00000499837.1:p.Glu1784=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773265" }, { "coordinates": [ { "allele": "G", "end": 11828, "referenceAllele": "G", "start": 11827 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672090.1:c.11629G=" ], "proteinEffect": { "hgvs": "ENSP00000500540.1:p.Glu3877=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773267" }, { "coordinates": [ { "allele": "G", "end": 5585, "referenceAllele": "G", "start": 5584 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672177.1:c.5386G=" ], "proteinEffect": { "hgvs": "ENSP00000500918.1:p.Glu1796=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773299" }, { "coordinates": [ { "allele": "G", "end": 11921, "referenceAllele": "G", "start": 11920 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672209.1:c.11722G=" ], "proteinEffect": { "hgvs": "ENSP00000499982.1:p.Glu3908=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773310" }, { "coordinates": [ { "allele": "G", "end": 5481, "referenceAllele": "G", "start": 5480 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672221.1:c.5371G=" ], "proteinEffect": { "hgvs": "ENSP00000500473.1:p.Glu1791=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773311" }, { "coordinates": [ { "allele": "G", "end": 12465, "referenceAllele": "G", "start": 12464 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672240.1:c.11872G=" ], "proteinEffect": { "hgvs": "ENSP00000500548.1:p.Glu3958=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773315" }, { "coordinates": [ { "allele": "G", "end": 5461, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5461, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672246.1:c.5262+208G=" ], "proteinEffect": { "hgvs": "ENSP00000499990.1:n.5262+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773317" }, { "coordinates": [ { "allele": "G", "end": 11773, "referenceAllele": "G", "start": 11772 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672251.1:c.11593G=" ], "proteinEffect": { "hgvs": "ENSP00000500580.1:p.Glu3865=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773319" }, { "coordinates": [ { "allele": "G", "end": 5584, "referenceAllele": "G", "start": 5583 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672312.1:c.5374G=" ], "proteinEffect": { "hgvs": "ENSP00000500378.1:p.Glu1792=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773340" }, { "coordinates": [ { "allele": "G", "end": 5502, "endIntronDirection": "+", "endIntronOffset": 3576, "referenceAllele": "G", "start": 5502, "startIntronDirection": "+", "startIntronOffset": 3575 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672315.1:c.5292+3576G=" ], "proteinEffect": { "hgvs": "ENSP00000500780.1:n.5292+3576G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773343" }, { "coordinates": [ { "allele": "G", "end": 5511, "referenceAllele": "G", "start": 5510 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672350.1:c.5311G=" ], "proteinEffect": { "hgvs": "ENSP00000500420.1:p.Glu1771=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773355" }, { "coordinates": [ { "allele": "G", "end": 5523, "referenceAllele": "G", "start": 5522 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672356.1:c.5251G=" ], "proteinEffect": { "hgvs": "ENSP00000500544.1:p.Glu1751=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773359" }, { "coordinates": [ { "allele": "G", "end": 5801, "referenceAllele": "G", "start": 5800 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672362.1:c.5602G=" ], "proteinEffect": { "hgvs": "ENSP00000500522.1:p.Glu1868=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773362" }, { "coordinates": [ { "allele": "G", "end": 5644, "referenceAllele": "G", "start": 5643 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672366.1:c.5437G=" ], "proteinEffect": { "hgvs": "ENSP00000500937.1:p.Glu1813=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773364" }, { "coordinates": [ { "allele": "G", "end": 5776, "referenceAllele": "G", "start": 5775 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672402.1:c.5566G=" ], "proteinEffect": { "hgvs": "ENSP00000500881.1:p.Glu1856=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773374" }, { "coordinates": [ { "allele": "G", "end": 3462, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 3462, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672411.1:c.3003+208G=" ], "proteinEffect": { "hgvs": "ENSP00000499979.1:n.3003+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773377" }, { "coordinates": [ { "allele": "G", "end": 11899, "referenceAllele": "G", "start": 11898 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672502.1:c.11692G=" ], "proteinEffect": { "hgvs": "ENSP00000499870.1:p.Glu3898=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773402" }, { "coordinates": [ { "allele": "G", "end": 5475, "referenceAllele": "G", "start": 5474 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672684.1:c.5275G=" ], "proteinEffect": { "hgvs": "ENSP00000499943.1:p.Glu1759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773457" }, { "coordinates": [ { "allele": "G", "end": 5679, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5679, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672696.1:c.5469+208G=" ], "proteinEffect": { "hgvs": "ENSP00000499828.1:n.5469+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773459" }, { "coordinates": [ { "allele": "G", "end": 5453, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5453, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672731.1:c.5253+208G=" ], "proteinEffect": { "hgvs": "ENSP00000500908.1:n.5253+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773470" }, { "coordinates": [ { "allele": "G", "end": 5450, "referenceAllele": "G", "start": 5449 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672759.1:c.5251G=" ], "proteinEffect": { "hgvs": "ENSP00000499881.1:p.Glu1751=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773480" }, { "coordinates": [ { "allele": "G", "end": 5634, "referenceAllele": "G", "start": 5633 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672779.1:c.5581G=" ], "proteinEffect": { "hgvs": "ENSP00000499869.1:p.Glu1861=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773486" }, { "coordinates": [ { "allele": "G", "end": 5666, "referenceAllele": "G", "start": 5665 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672793.1:c.5467G=" ], "proteinEffect": { "hgvs": "ENSP00000500150.1:p.Glu1823=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773490" }, { "coordinates": [ { "allele": "G", "end": 11938, "referenceAllele": "G", "start": 11937 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672830.1:c.11728G=" ], "proteinEffect": { "hgvs": "ENSP00000500222.1:p.Glu3910=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773506" }, { "coordinates": [ { "allele": "G", "end": 5518, "referenceAllele": "G", "start": 5517 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672854.1:c.5338G=" ], "proteinEffect": { "hgvs": "ENSP00000500311.1:p.Glu1780=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773513" }, { "coordinates": [ { "allele": "G", "end": 5573, "referenceAllele": "G", "start": 5572 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672880.1:c.5374G=" ], "proteinEffect": { "hgvs": "ENSP00000500866.1:p.Glu1792=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773527" }, { "coordinates": [ { "allele": "G", "end": 3212, "referenceAllele": "G", "start": 3211 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672915.1:c.2923G=" ], "proteinEffect": { "hgvs": "ENSP00000500622.1:p.Glu975=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773540" }, { "coordinates": [ { "allele": "G", "end": 11731, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 11731, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672930.1:c.11532+208G=" ], "proteinEffect": { "hgvs": "ENSP00000499913.1:n.11532+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773546" }, { "coordinates": [ { "allele": "G", "end": 11730, "referenceAllele": "G", "start": 11729 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672934.1:c.11530G=" ], "proteinEffect": { "hgvs": "ENSP00000500645.1:p.Glu3844=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773548" }, { "coordinates": [ { "allele": "G", "end": 5601, "referenceAllele": "G", "start": 5600 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672955.1:c.5350G=" ], "proteinEffect": { "hgvs": "ENSP00000500527.1:p.Glu1784=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773554" }, { "coordinates": [ { "allele": "G", "end": 5609, "referenceAllele": "G", "start": 5608 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672965.1:c.5410G=" ], "proteinEffect": { "hgvs": "ENSP00000499891.1:p.Glu1804=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773557" }, { "coordinates": [ { "allele": "G", "end": 5100, "referenceAllele": "G", "start": 5099 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672986.1:c.4954G=" ], "proteinEffect": { "hgvs": "ENSP00000499967.1:p.Glu1652=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773564" }, { "coordinates": [ { "allele": "G", "end": 5609, "referenceAllele": "G", "start": 5608 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672990.1:c.5410G=" ], "proteinEffect": { "hgvs": "ENSP00000500275.1:p.Glu1804=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773566" }, { "coordinates": [ { "allele": "G", "end": 5502, "endIntronDirection": "+", "endIntronOffset": 3576, "referenceAllele": "G", "start": 5502, "startIntronDirection": "+", "startIntronOffset": 3575 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673044.1:c.5292+3576G=" ], "proteinEffect": { "hgvs": "ENSP00000500933.1:n.5292+3576G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773579" }, { "coordinates": [ { "allele": "G", "end": 3229, "referenceAllele": "G", "start": 3228 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673048.1:c.3085G=" ], "proteinEffect": { "hgvs": "ENSP00000500832.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773582" }, { "coordinates": [ { "allele": "G", "end": 11705, "referenceAllele": "G", "start": 11704 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673109.1:c.11506G=" ], "proteinEffect": { "hgvs": "ENSP00000500265.1:p.Glu3836=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773590" }, { "coordinates": [ { "allele": "G", "end": 3537, "referenceAllele": "G", "start": 3536 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673231.1:c.3100G=" ], "proteinEffect": { "hgvs": "ENSP00000500111.1:p.Glu1034=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773623" }, { "coordinates": [ { "allele": "G", "end": 6174, "referenceAllele": "G", "start": 6173 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673240.1:c.5581G=" ], "proteinEffect": { "hgvs": "ENSP00000499996.1:p.Glu1861=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773629" }, { "coordinates": [ { "allele": "G", "end": 5573, "referenceAllele": "G", "start": 5572 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673255.1:c.5374G=" ], "proteinEffect": { "hgvs": "ENSP00000500423.1:p.Glu1792=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773636" }, { "coordinates": [ { "allele": "G", "end": 11828, "referenceAllele": "G", "start": 11827 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673298.1:c.11629G=" ], "proteinEffect": { "hgvs": "ENSP00000500245.1:p.Glu3877=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773644" }, { "coordinates": [ { "allele": "G", "end": 11647, "endIntronDirection": "+", "endIntronOffset": 3576, "referenceAllele": "G", "start": 11647, "startIntronDirection": "+", "startIntronOffset": 3575 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673334.1:c.11448+3576G=" ], "proteinEffect": { "hgvs": "ENSP00000500854.1:n.11448+3576G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773653" }, { "coordinates": [ { "allele": "G", "end": 3436, "referenceAllele": "G", "start": 3435 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673353.1:c.3064G=" ], "proteinEffect": { "hgvs": "ENSP00000500007.1:p.Glu1022=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773656" }, { "coordinates": [ { "allele": "G", "end": 12330, "referenceAllele": "G", "start": 12329 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673363.1:c.11737G=" ], "proteinEffect": { "hgvs": "ENSP00000500539.1:p.Glu3913=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773659" }, { "coordinates": [ { "allele": "G", "end": 5666, "referenceAllele": "G", "start": 5665 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673430.1:c.5467G=" ], "proteinEffect": { "hgvs": "ENSP00000500269.1:p.Glu1823=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773677" }, { "coordinates": [ { "allele": "G", "end": 5497, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5497, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673453.1:c.5298+208G=" ], "proteinEffect": { "hgvs": "ENSP00000500112.1:n.5298+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773688" }, { "coordinates": [ { "allele": "G", "end": 5692, "referenceAllele": "G", "start": 5691 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673536.1:c.5044G=" ], "proteinEffect": { "hgvs": "ENSP00000500524.1:p.Glu1682=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773715" }, { "coordinates": [ { "allele": "G", "end": 3338, "referenceAllele": "G", "start": 3337 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673538.1:c.*1029G=" ], "proteinEffect": { "hgvs": "ENSP00000500842.1:n.*1029G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773716" }, { "coordinates": [ { "allele": "G", "end": 5511, "referenceAllele": "G", "start": 5510 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673546.1:c.5311G=" ], "proteinEffect": { "hgvs": "ENSP00000500843.1:p.Glu1771=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773717" }, { "coordinates": [ { "allele": "G", "end": 11824, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 11824, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673555.1:c.11625+208G=" ], "proteinEffect": { "hgvs": "ENSP00000500947.1:n.11625+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773720" }, { "coordinates": [ { "allele": "G", "end": 11766, "referenceAllele": "G", "start": 11765 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673573.1:c.11566G=" ], "proteinEffect": { "hgvs": "ENSP00000500883.1:p.Glu3856=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773726" }, { "coordinates": [ { "allele": "G", "end": 11692, "referenceAllele": "G", "start": 11691 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000264366.10:c.11692G=" ], "proteinEffect": { "hgvs": "ENSP00000264366.6:p.Glu3898=" }, "referenceSequence": "http://reg.genome.network/refseq/RS251486" }, { "coordinates": [ { "allele": "G", "end": 11844, "referenceAllele": "G", "start": 11843 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000357077.8:c.11791G=" ], "proteinEffect": { "hgvs": "ENSP00000349588.4:p.Glu3931=" }, "referenceSequence": "http://reg.genome.network/refseq/RS263974" }, { "coordinates": [ { "allele": "G", "end": 5589, "referenceAllele": "G", "start": 5588 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000394537.7:c.5536G=" ], "proteinEffect": { "hgvs": "ENSP00000378044.3:p.Glu1846=" }, "referenceSequence": "http://reg.genome.network/refseq/RS276213" }, { "coordinates": [ { "allele": "G", "end": 2821, "referenceAllele": "G", "start": 2820 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000505342.5:c.2821G=" ], "proteinEffect": { "hgvs": "ENSP00000422498.1:p.Glu941=" }, "referenceSequence": "http://reg.genome.network/refseq/RS337160" }, { "coordinates": [ { "allele": "G", "end": 65, "referenceAllele": "G", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000506344.5:c.65G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS337903" }, { "coordinates": [ { "allele": "G", "end": 5704, "referenceAllele": "G", "start": 5703 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000506722.5:c.5509G=" ], "proteinEffect": { "hgvs": "ENSP00000421067.1:p.Glu1837=" }, "referenceSequence": "http://reg.genome.network/refseq/RS338202" }, { "coordinates": [ { "allele": "G", "end": 3379, "referenceAllele": "G", "start": 3378 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000509550.5:c.3064G=" ], "proteinEffect": { "hgvs": "ENSP00000426944.1:p.Glu1022=" }, "referenceSequence": "http://reg.genome.network/refseq/RS340285" }, { "coordinates": [ { "allele": "G", "end": 1591, "referenceAllele": "G", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000510275.6:c.1585G=" ], "proteinEffect": { "hgvs": "ENSP00000421023.2:p.Glu529=" }, "referenceSequence": "http://reg.genome.network/refseq/RS340827" }, { "coordinates": [ { "allele": "G", "end": 23, "referenceAllele": "G", "start": 22 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000514167.1:c.23G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS343720" }, { "coordinates": [ { "allele": "G", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000514960.5:c.2633G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS344314" }, { "coordinates": [ { "allele": "G", "end": 3793, "referenceAllele": "G", "start": 3792 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000612754.1:c.*3152G=" ], "proteinEffect": { "hgvs": "ENSP00000482888.1:n.*3152G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS401442" }, { "coordinates": [ { "allele": "G", "end": 5730, "referenceAllele": "G", "start": 5729 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001127493.1:c.5509G=", "LRG_327t2:c.5509G=" ], "proteinEffect": { "hgvs": "NP_001120965.1:p.Glu1837=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011627" }, { "@id": "http://reg.genome.network/allele/PA3069878769", "coordinates": [ { "allele": "G", "end": 11891, "referenceAllele": "G", "start": 11890 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001148.4:c.11791G=", "LRG_327t1:c.11791G=" ], "proteinEffect": { "hgvs": "NP_001139.3:p.Glu3931=" }, "referenceSequence": "http://reg.genome.network/refseq/RS013986" }, { "coordinates": [ { "allele": "G", "end": 5636, "referenceAllele": "G", "start": 5635 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_020977.3:c.5536G=" ], "proteinEffect": { "hgvs": "NP_066187.2:p.Glu1846=" }, "referenceSequence": "http://reg.genome.network/refseq/RS036734" }, { "coordinates": [ { "allele": "G", "end": 12165, "referenceAllele": "G", "start": 12164 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_005262942.3:c.11917G=" ], "proteinEffect": { "hgvs": "XP_005262999.1:p.Glu3973=" }, "referenceSequence": "http://reg.genome.network/refseq/RS063624" }, { "coordinates": [ { "allele": "G", "end": 11792, "referenceAllele": "G", "start": 11791 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_005262945.1:c.11692G=" ], "proteinEffect": { "hgvs": "XP_005263002.1:p.Glu3898=" }, "referenceSequence": "http://reg.genome.network/refseq/RS063625" }, { "coordinates": [ { "allele": "G", "end": 5769, "referenceAllele": "G", "start": 5768 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_005262948.3:c.5533G=" ], "proteinEffect": { "hgvs": "XP_005263005.1:p.Glu1845=" }, "referenceSequence": "http://reg.genome.network/refseq/RS063626" }, { "coordinates": [ { "allele": "G", "end": 12219, "referenceAllele": "G", "start": 12218 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714188.2:c.11971G=" ], "proteinEffect": { "hgvs": "XP_006714251.1:p.Glu3991=" }, "referenceSequence": "http://reg.genome.network/refseq/RS070533" }, { "coordinates": [ { "allele": "G", "end": 12183, "referenceAllele": "G", "start": 12182 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714189.2:c.11935G=" ], "proteinEffect": { "hgvs": "XP_006714252.1:p.Glu3979=" }, "referenceSequence": "http://reg.genome.network/refseq/RS070534" }, { "coordinates": [ { "allele": "G", "end": 5920, "referenceAllele": "G", "start": 5919 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714190.2:c.5683G=" ], "proteinEffect": { "hgvs": "XP_006714253.1:p.Glu1895=" }, "referenceSequence": "http://reg.genome.network/refseq/RS070535" }, { "coordinates": [ { "allele": "G", "end": 5860, "referenceAllele": "G", "start": 5859 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714191.2:c.5623G=" ], "proteinEffect": { "hgvs": "XP_006714254.1:p.Glu1875=" }, "referenceSequence": "http://reg.genome.network/refseq/RS070536" }, { "coordinates": [ { "allele": "G", "end": 5884, "referenceAllele": "G", "start": 5883 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714192.2:c.5647G=" ], "proteinEffect": { "hgvs": "XP_006714255.1:p.Glu1883=" }, "referenceSequence": "http://reg.genome.network/refseq/RS070537" }, { "coordinates": [ { "allele": "G", "end": 5860, "referenceAllele": "G", "start": 5859 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714193.2:c.5623G=" ], "proteinEffect": { "hgvs": "XP_006714256.1:p.Glu1875=" }, "referenceSequence": "http://reg.genome.network/refseq/RS070538" }, { "coordinates": [ { "allele": "G", "end": 12159, "referenceAllele": "G", "start": 12158 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714194.2:c.11911G=" ], "proteinEffect": { "hgvs": "XP_006714257.1:p.Glu3971=" }, "referenceSequence": "http://reg.genome.network/refseq/RS070539" }, { "coordinates": [ { "allele": "G", "end": 12092, "referenceAllele": "G", "start": 12091 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_011531891.1:c.11956G=" ], "proteinEffect": { "hgvs": "XP_011530193.1:p.Glu3986=" }, "referenceSequence": "http://reg.genome.network/refseq/RS098922" }, { "coordinates": [ { "allele": "G", "end": 5816, "referenceAllele": "G", "start": 5815 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001127493.2:c.5509G=" ], "proteinEffect": { "hgvs": "NP_001120965.1:p.Glu1837=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511409" }, { "@id": "http://reg.genome.network/allele/PA3069878769", "coordinates": [ { "allele": "G", "end": 12106, "referenceAllele": "G", "start": 12105 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001148.5:c.11791G=" ], "proteinEffect": { "hgvs": "NP_001139.3:p.Glu3931=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511622" }, { "coordinates": [ { "allele": "G", "end": 5863, "referenceAllele": "G", "start": 5862 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354225.1:c.5548G=" ], "proteinEffect": { "hgvs": "NP_001341154.1:p.Glu1850=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522233" }, { "coordinates": [ { "allele": "G", "end": 5845, "referenceAllele": "G", "start": 5844 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354228.1:c.5530G=" ], "proteinEffect": { "hgvs": "NP_001341157.1:p.Glu1844=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522236" }, { "coordinates": [ { "allele": "G", "end": 6108, "referenceAllele": "G", "start": 6107 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354230.1:c.5515G=" ], "proteinEffect": { "hgvs": "NP_001341159.1:p.Glu1839=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522238" }, { "coordinates": [ { "allele": "G", "end": 6264, "referenceAllele": "G", "start": 6263 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354231.1:c.5671G=" ], "proteinEffect": { "hgvs": "NP_001341160.1:p.Glu1891=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522239" }, { "coordinates": [ { "allele": "G", "end": 5980, "referenceAllele": "G", "start": 5979 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354232.1:c.5665G=" ], "proteinEffect": { "hgvs": "NP_001341161.1:p.Glu1889=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522240" }, { "coordinates": [ { "allele": "G", "end": 5941, "referenceAllele": "G", "start": 5940 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354235.1:c.5626G=" ], "proteinEffect": { "hgvs": "NP_001341164.1:p.Glu1876=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522243" }, { "coordinates": [ { "allele": "G", "end": 5749, "referenceAllele": "G", "start": 5748 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354236.1:c.5434G=" ], "proteinEffect": { "hgvs": "NP_001341165.1:p.Glu1812=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522244" }, { "coordinates": [ { "allele": "G", "end": 6207, "referenceAllele": "G", "start": 6206 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354237.1:c.5614G=" ], "proteinEffect": { "hgvs": "NP_001341166.1:p.Glu1872=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522245" }, { "coordinates": [ { "allele": "G", "end": 5906, "referenceAllele": "G", "start": 5905 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354239.1:c.5599G=" ], "proteinEffect": { "hgvs": "NP_001341168.1:p.Glu1867=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522247" }, { "coordinates": [ { "allele": "G", "end": 6174, "referenceAllele": "G", "start": 6173 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354240.1:c.5581G=" ], "proteinEffect": { "hgvs": "NP_001341169.1:p.Glu1861=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522248" }, { "coordinates": [ { "allele": "G", "end": 5896, "referenceAllele": "G", "start": 5895 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354241.1:c.5581G=" ], "proteinEffect": { "hgvs": "NP_001341170.1:p.Glu1861=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522249" }, { "coordinates": [ { "allele": "G", "end": 6171, "referenceAllele": "G", "start": 6170 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354242.1:c.5578G=" ], "proteinEffect": { "hgvs": "NP_001341171.1:p.Glu1860=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522250" }, { "coordinates": [ { "allele": "G", "end": 5873, "referenceAllele": "G", "start": 5872 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354243.1:c.5566G=" ], "proteinEffect": { "hgvs": "NP_001341172.1:p.Glu1856=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522251" }, { "coordinates": [ { "allele": "G", "end": 5870, "referenceAllele": "G", "start": 5869 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354244.1:c.5563G=" ], "proteinEffect": { "hgvs": "NP_001341173.1:p.Glu1855=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522252" }, { "coordinates": [ { "allele": "G", "end": 5689, "referenceAllele": "G", "start": 5688 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354245.1:c.5374G=" ], "proteinEffect": { "hgvs": "NP_001341174.1:p.Glu1792=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522253" }, { "coordinates": [ { "allele": "G", "end": 5848, "referenceAllele": "G", "start": 5847 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354246.1:c.5533G=" ], "proteinEffect": { "hgvs": "NP_001341175.1:p.Glu1845=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522254" }, { "coordinates": [ { "allele": "G", "end": 5657, "referenceAllele": "G", "start": 5656 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354249.1:c.5350G=" ], "proteinEffect": { "hgvs": "NP_001341178.1:p.Glu1784=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522257" }, { "coordinates": [ { "allele": "G", "end": 5813, "referenceAllele": "G", "start": 5812 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354252.1:c.5506G=" ], "proteinEffect": { "hgvs": "NP_001341181.1:p.Glu1836=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522260" }, { "coordinates": [ { "allele": "G", "end": 5618, "referenceAllele": "G", "start": 5617 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354253.1:c.5311G=" ], "proteinEffect": { "hgvs": "NP_001341182.1:p.Glu1771=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522261" }, { "coordinates": [ { "allele": "G", "end": 5792, "referenceAllele": "G", "start": 5791 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354254.1:c.5485G=" ], "proteinEffect": { "hgvs": "NP_001341183.1:p.Glu1829=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522262" }, { "coordinates": [ { "allele": "G", "end": 5780, "referenceAllele": "G", "start": 5779 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354255.1:c.5473G=" ], "proteinEffect": { "hgvs": "NP_001341184.1:p.Glu1825=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522263" }, { "coordinates": [ { "allele": "G", "end": 5777, "referenceAllele": "G", "start": 5776 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354256.1:c.5470G=" ], "proteinEffect": { "hgvs": "NP_001341185.1:p.Glu1824=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522264" }, { "coordinates": [ { "allele": "G", "end": 5582, "referenceAllele": "G", "start": 5581 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354257.1:c.5275G=" ], "proteinEffect": { "hgvs": "NP_001341186.1:p.Glu1759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522265" }, { "coordinates": [ { "allele": "G", "end": 5752, "referenceAllele": "G", "start": 5751 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354258.1:c.5437G=" ], "proteinEffect": { "hgvs": "NP_001341187.1:p.Glu1813=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522266" }, { "coordinates": [ { "allele": "G", "end": 5558, "referenceAllele": "G", "start": 5557 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354260.1:c.5251G=" ], "proteinEffect": { "hgvs": "NP_001341189.1:p.Glu1751=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522268" }, { "coordinates": [ { "allele": "G", "end": 5583, "referenceAllele": "G", "start": 5582 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354261.1:c.5395G=" ], "proteinEffect": { "hgvs": "NP_001341190.1:p.Glu1799=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522269" }, { "coordinates": [ { "allele": "G", "end": 5681, "referenceAllele": "G", "start": 5680 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354262.1:c.5374G=" ], "proteinEffect": { "hgvs": "NP_001341191.1:p.Glu1792=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522270" }, { "coordinates": [ { "allele": "G", "end": 5559, "referenceAllele": "G", "start": 5558 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354264.1:c.5371G=" ], "proteinEffect": { "hgvs": "NP_001341193.1:p.Glu1791=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522272" }, { "coordinates": [ { "allele": "G", "end": 5751, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5751, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354265.1:c.5436+208G=" ], "proteinEffect": { "hgvs": "NP_001341194.1:n.5436+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522273" }, { "coordinates": [ { "allele": "G", "end": 5657, "referenceAllele": "G", "start": 5656 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354266.1:c.5350G=" ], "proteinEffect": { "hgvs": "NP_001341195.1:p.Glu1784=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522274" }, { "coordinates": [ { "allele": "G", "end": 5538, "referenceAllele": "G", "start": 5537 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354267.1:c.5350G=" ], "proteinEffect": { "hgvs": "NP_001341196.1:p.Glu1784=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522275" }, { "coordinates": [ { "allele": "G", "end": 5653, "referenceAllele": "G", "start": 5652 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354268.1:c.5338G=" ], "proteinEffect": { "hgvs": "NP_001341197.1:p.Glu1780=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522276" }, { "coordinates": [ { "allele": "G", "end": 5451, "referenceAllele": "G", "start": 5450 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354269.1:c.5323G=" ], "proteinEffect": { "hgvs": "NP_001341198.1:p.Glu1775=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522277" }, { "coordinates": [ { "allele": "G", "end": 5618, "referenceAllele": "G", "start": 5617 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354270.1:c.5311G=" ], "proteinEffect": { "hgvs": "NP_001341199.1:p.Glu1771=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522278" }, { "coordinates": [ { "allele": "G", "end": 5439, "referenceAllele": "G", "start": 5438 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354271.1:c.5251G=" ], "proteinEffect": { "hgvs": "NP_001341200.1:p.Glu1751=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522279" }, { "coordinates": [ { "allele": "G", "end": 5617, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5617, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354272.1:c.5310+208G=" ], "proteinEffect": { "hgvs": "NP_001341201.1:n.5310+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522280" }, { "coordinates": [ { "allele": "G", "end": 5551, "referenceAllele": "G", "start": 5550 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354273.1:c.5236G=" ], "proteinEffect": { "hgvs": "NP_001341202.1:p.Glu1746=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522281" }, { "coordinates": [ { "allele": "G", "end": 5605, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5605, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354274.1:c.5298+208G=" ], "proteinEffect": { "hgvs": "NP_001341203.1:n.5298+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522282" }, { "coordinates": [ { "allele": "G", "end": 5584, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5584, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354275.1:c.5277+208G=" ], "proteinEffect": { "hgvs": "NP_001341204.1:n.5277+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522283" }, { "coordinates": [ { "allele": "G", "end": 5560, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5560, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354276.1:c.5253+208G=" ], "proteinEffect": { "hgvs": "NP_001341205.1:n.5253+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522284" }, { "coordinates": [ { "allele": "G", "end": 5362, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5362, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354277.1:c.5055+208G=" ], "proteinEffect": { "hgvs": "NP_001341206.1:n.5055+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522285" }, { "coordinates": [ { "allele": "G", "end": 3522, "referenceAllele": "G", "start": 3521 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354278.1:c.3064G=" ], "proteinEffect": { "hgvs": "NP_001341207.1:p.Glu1022=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522286" }, { "coordinates": [ { "allele": "G", "end": 3558, "referenceAllele": "G", "start": 3557 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354279.1:c.3100G=" ], "proteinEffect": { "hgvs": "NP_001341208.1:p.Glu1034=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522287" }, { "coordinates": [ { "allele": "G", "end": 3543, "referenceAllele": "G", "start": 3542 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354280.1:c.3085G=" ], "proteinEffect": { "hgvs": "NP_001341209.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522288" }, { "coordinates": [ { "allele": "G", "end": 3522, "referenceAllele": "G", "start": 3521 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354281.1:c.3064G=" ], "proteinEffect": { "hgvs": "NP_001341210.1:p.Glu1022=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522289" }, { "coordinates": [ { "allele": "G", "end": 3461, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 3461, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354282.1:c.3003+208G=" ], "proteinEffect": { "hgvs": "NP_001341211.1:n.3003+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522290" }, { "coordinates": [ { "allele": "G", "end": 5851, "referenceAllele": "G", "start": 5850 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_020977.4:c.5536G=" ], "proteinEffect": { "hgvs": "NP_066187.2:p.Glu1846=" }, "referenceSequence": "http://reg.genome.network/refseq/RS526026" }, { "coordinates": [ { "allele": "G", "end": 11792, "referenceAllele": "G", "start": 11791 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_005262945.3:c.11692G=" ], "proteinEffect": { "hgvs": "XP_005263002.1:p.Glu3898=" }, "referenceSequence": "http://reg.genome.network/refseq/RS535578" }, { "coordinates": [ { "allele": "G", "end": 12941, "referenceAllele": "G", "start": 12940 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008067.1:c.12025G=" ], "proteinEffect": { "hgvs": "XP_016863556.1:p.Glu4009=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562672" }, { "coordinates": [ { "allele": "G", "end": 12916, "referenceAllele": "G", "start": 12915 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008069.1:c.12001G=" ], "proteinEffect": { "hgvs": "XP_016863558.1:p.Glu4001=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562673" }, { "coordinates": [ { "allele": "G", "end": 12132, "referenceAllele": "G", "start": 12131 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008071.2:c.11911G=" ], "proteinEffect": { "hgvs": "XP_016863560.1:p.Glu3971=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562674" }, { "coordinates": [ { "allele": "G", "end": 12108, "referenceAllele": "G", "start": 12107 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008072.2:c.11887G=" ], "proteinEffect": { "hgvs": "XP_016863561.1:p.Glu3963=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562675" }, { "coordinates": [ { "allele": "G", "end": 11984, "referenceAllele": "G", "start": 11983 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008073.2:c.11884G=" ], "proteinEffect": { "hgvs": "XP_016863562.1:p.Glu3962=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562676" }, { "coordinates": [ { "allele": "G", "end": 12078, "referenceAllele": "G", "start": 12077 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008074.2:c.11857G=" ], "proteinEffect": { "hgvs": "XP_016863563.1:p.Glu3953=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562677" }, { "coordinates": [ { "allele": "G", "end": 12042, "referenceAllele": "G", "start": 12041 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008075.2:c.11821G=" ], "proteinEffect": { "hgvs": "XP_016863564.1:p.Glu3941=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562678" }, { "coordinates": [ { "allele": "G", "end": 11891, "referenceAllele": "G", "start": 11890 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008076.2:c.11791G=" ], "proteinEffect": { "hgvs": "XP_016863565.1:p.Glu3931=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562679" }, { "coordinates": [ { "allele": "G", "end": 11919, "referenceAllele": "G", "start": 11918 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008077.2:c.11698G=" ], "proteinEffect": { "hgvs": "XP_016863566.1:p.Glu3900=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562680" }, { "coordinates": [ { "allele": "G", "end": 5636, "referenceAllele": "G", "start": 5635 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008078.2:c.5536G=" ], "proteinEffect": { "hgvs": "XP_016863567.1:p.Glu1846=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562681" }, { "coordinates": [ { "allele": "G", "end": 5607, "referenceAllele": "G", "start": 5606 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008080.2:c.5386G=" ], "proteinEffect": { "hgvs": "XP_016863569.1:p.Glu1796=" }, "referenceSequence": "http://reg.genome.network/refseq/RS562682" }, { "coordinates": [ { "allele": "G", "end": 12020, "referenceAllele": "G", "start": 12019 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454016.1:c.11920G=" ], "proteinEffect": { "hgvs": "XP_024309784.1:p.Glu3974=" }, "referenceSequence": "http://reg.genome.network/refseq/RS587388" }, { "coordinates": [ { "allele": "G", "end": 5765, "referenceAllele": "G", "start": 5764 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454017.1:c.5665G=" ], "proteinEffect": { "hgvs": "XP_024309785.1:p.Glu1889=" }, "referenceSequence": "http://reg.genome.network/refseq/RS587389" }, { "coordinates": [ { "allele": "G", "end": 5630, "referenceAllele": "G", "start": 5629 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454018.1:c.5530G=" ], "proteinEffect": { "hgvs": "XP_024309786.1:p.Glu1844=" }, "referenceSequence": "http://reg.genome.network/refseq/RS587390" }, { "coordinates": [ { "allele": "G", "end": 5812, "referenceAllele": "G", "start": 5811 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454019.1:c.5515G=" ], "proteinEffect": { "hgvs": "XP_024309787.1:p.Glu1839=" }, "referenceSequence": "http://reg.genome.network/refseq/RS587391" }, { "coordinates": [ { "allele": "G", "end": 5537, "referenceAllele": "G", "start": 5536 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454020.1:c.5437G=" ], "proteinEffect": { "hgvs": "XP_024309788.1:p.Glu1813=" }, "referenceSequence": "http://reg.genome.network/refseq/RS587392" }, { "coordinates": [ { "allele": "G", "end": 5534, "referenceAllele": "G", "start": 5533 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454021.1:c.5434G=" ], "proteinEffect": { "hgvs": "XP_024309789.1:p.Glu1812=" }, "referenceSequence": "http://reg.genome.network/refseq/RS587393" }, { "coordinates": [ { "allele": "G", "end": 5474, "referenceAllele": "G", "start": 5473 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454022.1:c.5374G=" ], "proteinEffect": { "hgvs": "XP_024309790.1:p.Glu1792=" }, "referenceSequence": "http://reg.genome.network/refseq/RS587394" }, { "coordinates": [ { "allele": "G", "end": 5336, "referenceAllele": "G", "start": 5335 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454023.1:c.5236G=" ], "proteinEffect": { "hgvs": "XP_024309791.1:p.Glu1746=" }, "referenceSequence": "http://reg.genome.network/refseq/RS587395" }, { "@id": "http://reg.genome.network/allele/PA3069878769", "coordinates": [ { "allele": "G", "end": 11867, "referenceAllele": "G", "start": 11866 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001148.6:c.11791G=" ], "proteinEffect": { "hgvs": "NP_001139.3:p.Glu3931=" }, "referenceSequence": "http://reg.genome.network/refseq/RS663800", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357077.9:c.11791G=" }, "RefSeq": { "hgvs": "NM_001148.6:c.11791G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349588.4:p.Glu3931=" }, "RefSeq": { "hgvs": "NP_001139.3:p.Glu3931=" } } } }, { "coordinates": [ { "allele": "G", "end": 5708, "referenceAllele": "G", "start": 5707 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001127493.3:c.5509G=" ], "proteinEffect": { "hgvs": "NP_001120965.1:p.Glu1837=" }, "referenceSequence": "http://reg.genome.network/refseq/RS712217" }, { "coordinates": [ { "allele": "G", "end": 5863, "referenceAllele": "G", "start": 5862 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354225.2:c.5548G=" ], "proteinEffect": { "hgvs": "NP_001341154.1:p.Glu1850=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720344" }, { "coordinates": [ { "allele": "G", "end": 5845, "referenceAllele": "G", "start": 5844 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354228.2:c.5530G=" ], "proteinEffect": { "hgvs": "NP_001341157.1:p.Glu1844=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720345" }, { "coordinates": [ { "allele": "G", "end": 5796, "referenceAllele": "G", "start": 5795 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354230.2:c.5515G=" ], "proteinEffect": { "hgvs": "NP_001341159.1:p.Glu1839=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720346" }, { "coordinates": [ { "allele": "G", "end": 5952, "referenceAllele": "G", "start": 5951 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354231.2:c.5671G=" ], "proteinEffect": { "hgvs": "NP_001341160.1:p.Glu1891=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720347" }, { "coordinates": [ { "allele": "G", "end": 5980, "referenceAllele": "G", "start": 5979 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354232.2:c.5665G=" ], "proteinEffect": { "hgvs": "NP_001341161.1:p.Glu1889=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720348" }, { "coordinates": [ { "allele": "G", "end": 5941, "referenceAllele": "G", "start": 5940 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354235.2:c.5626G=" ], "proteinEffect": { "hgvs": "NP_001341164.1:p.Glu1876=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720349" }, { "coordinates": [ { "allele": "G", "end": 5749, "referenceAllele": "G", "start": 5748 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354236.2:c.5434G=" ], "proteinEffect": { "hgvs": "NP_001341165.1:p.Glu1812=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720350" }, { "coordinates": [ { "allele": "G", "end": 5895, "referenceAllele": "G", "start": 5894 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354237.2:c.5614G=" ], "proteinEffect": { "hgvs": "NP_001341166.1:p.Glu1872=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720351" }, { "coordinates": [ { "allele": "G", "end": 5798, "referenceAllele": "G", "start": 5797 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354239.2:c.5599G=" ], "proteinEffect": { "hgvs": "NP_001341168.1:p.Glu1867=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720352" }, { "coordinates": [ { "allele": "G", "end": 5862, "referenceAllele": "G", "start": 5861 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354240.2:c.5581G=" ], "proteinEffect": { "hgvs": "NP_001341169.1:p.Glu1861=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720353" }, { "coordinates": [ { "allele": "G", "end": 5896, "referenceAllele": "G", "start": 5895 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354241.2:c.5581G=" ], "proteinEffect": { "hgvs": "NP_001341170.1:p.Glu1861=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720354" }, { "coordinates": [ { "allele": "G", "end": 5859, "referenceAllele": "G", "start": 5858 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354242.2:c.5578G=" ], "proteinEffect": { "hgvs": "NP_001341171.1:p.Glu1860=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720355" }, { "coordinates": [ { "allele": "G", "end": 5765, "referenceAllele": "G", "start": 5764 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354243.2:c.5566G=" ], "proteinEffect": { "hgvs": "NP_001341172.1:p.Glu1856=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720356" }, { "coordinates": [ { "allele": "G", "end": 5762, "referenceAllele": "G", "start": 5761 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354244.2:c.5563G=" ], "proteinEffect": { "hgvs": "NP_001341173.1:p.Glu1855=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720357" }, { "coordinates": [ { "allele": "G", "end": 5689, "referenceAllele": "G", "start": 5688 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354245.2:c.5374G=" ], "proteinEffect": { "hgvs": "NP_001341174.1:p.Glu1792=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720358" }, { "coordinates": [ { "allele": "G", "end": 5848, "referenceAllele": "G", "start": 5847 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354246.2:c.5533G=" ], "proteinEffect": { "hgvs": "NP_001341175.1:p.Glu1845=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720359" }, { "coordinates": [ { "allele": "G", "end": 5549, "referenceAllele": "G", "start": 5548 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354249.2:c.5350G=" ], "proteinEffect": { "hgvs": "NP_001341178.1:p.Glu1784=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720360" }, { "coordinates": [ { "allele": "G", "end": 5705, "referenceAllele": "G", "start": 5704 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354252.2:c.5506G=" ], "proteinEffect": { "hgvs": "NP_001341181.1:p.Glu1836=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720361" }, { "coordinates": [ { "allele": "G", "end": 5510, "referenceAllele": "G", "start": 5509 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354253.2:c.5311G=" ], "proteinEffect": { "hgvs": "NP_001341182.1:p.Glu1771=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720362" }, { "coordinates": [ { "allele": "G", "end": 5684, "referenceAllele": "G", "start": 5683 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354254.2:c.5485G=" ], "proteinEffect": { "hgvs": "NP_001341183.1:p.Glu1829=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720363" }, { "coordinates": [ { "allele": "G", "end": 5672, "referenceAllele": "G", "start": 5671 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354255.2:c.5473G=" ], "proteinEffect": { "hgvs": "NP_001341184.1:p.Glu1825=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720364" }, { "coordinates": [ { "allele": "G", "end": 5669, "referenceAllele": "G", "start": 5668 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354256.2:c.5470G=" ], "proteinEffect": { "hgvs": "NP_001341185.1:p.Glu1824=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720365" }, { "coordinates": [ { "allele": "G", "end": 5474, "referenceAllele": "G", "start": 5473 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354257.2:c.5275G=" ], "proteinEffect": { "hgvs": "NP_001341186.1:p.Glu1759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720366" }, { "coordinates": [ { "allele": "G", "end": 5752, "referenceAllele": "G", "start": 5751 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354258.2:c.5437G=" ], "proteinEffect": { "hgvs": "NP_001341187.1:p.Glu1813=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720367" }, { "coordinates": [ { "allele": "G", "end": 5450, "referenceAllele": "G", "start": 5449 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354260.2:c.5251G=" ], "proteinEffect": { "hgvs": "NP_001341189.1:p.Glu1751=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720368" }, { "coordinates": [ { "allele": "G", "end": 5583, "referenceAllele": "G", "start": 5582 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354261.2:c.5395G=" ], "proteinEffect": { "hgvs": "NP_001341190.1:p.Glu1799=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720369" }, { "coordinates": [ { "allele": "G", "end": 5573, "referenceAllele": "G", "start": 5572 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354262.2:c.5374G=" ], "proteinEffect": { "hgvs": "NP_001341191.1:p.Glu1792=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720370" }, { "coordinates": [ { "allele": "G", "end": 5559, "referenceAllele": "G", "start": 5558 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354264.2:c.5371G=" ], "proteinEffect": { "hgvs": "NP_001341193.1:p.Glu1791=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720371" }, { "coordinates": [ { "allele": "G", "end": 5751, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5751, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354265.2:c.5436+208G=" ], "proteinEffect": { "hgvs": "NP_001341194.1:n.5436+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720372" }, { "coordinates": [ { "allele": "G", "end": 5549, "referenceAllele": "G", "start": 5548 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354266.2:c.5350G=" ], "proteinEffect": { "hgvs": "NP_001341195.1:p.Glu1784=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720373" }, { "coordinates": [ { "allele": "G", "end": 5538, "referenceAllele": "G", "start": 5537 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354267.2:c.5350G=" ], "proteinEffect": { "hgvs": "NP_001341196.1:p.Glu1784=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720374" }, { "coordinates": [ { "allele": "G", "end": 5653, "referenceAllele": "G", "start": 5652 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354268.2:c.5338G=" ], "proteinEffect": { "hgvs": "NP_001341197.1:p.Glu1780=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720375" }, { "coordinates": [ { "allele": "G", "end": 5847, "referenceAllele": "G", "start": 5846 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354269.3:c.5323G=" ], "proteinEffect": { "hgvs": "NP_001341198.1:p.Glu1775=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720376" }, { "coordinates": [ { "allele": "G", "end": 5510, "referenceAllele": "G", "start": 5509 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354270.2:c.5311G=" ], "proteinEffect": { "hgvs": "NP_001341199.1:p.Glu1771=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720377" }, { "coordinates": [ { "allele": "G", "end": 5439, "referenceAllele": "G", "start": 5438 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354271.2:c.5251G=" ], "proteinEffect": { "hgvs": "NP_001341200.1:p.Glu1751=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720378" }, { "coordinates": [ { "allele": "G", "end": 5509, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5509, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354272.2:c.5310+208G=" ], "proteinEffect": { "hgvs": "NP_001341201.1:n.5310+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720379" }, { "coordinates": [ { "allele": "G", "end": 5551, "referenceAllele": "G", "start": 5550 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354273.2:c.5236G=" ], "proteinEffect": { "hgvs": "NP_001341202.1:p.Glu1746=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720380" }, { "coordinates": [ { "allele": "G", "end": 5497, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5497, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354274.2:c.5298+208G=" ], "proteinEffect": { "hgvs": "NP_001341203.1:n.5298+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720381" }, { "coordinates": [ { "allele": "G", "end": 5476, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5476, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354275.2:c.5277+208G=" ], "proteinEffect": { "hgvs": "NP_001341204.1:n.5277+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720382" }, { "coordinates": [ { "allele": "G", "end": 5452, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5452, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354276.2:c.5253+208G=" ], "proteinEffect": { "hgvs": "NP_001341205.1:n.5253+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720383" }, { "coordinates": [ { "allele": "G", "end": 5254, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5254, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354277.2:c.5055+208G=" ], "proteinEffect": { "hgvs": "NP_001341206.1:n.5055+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720384" }, { "coordinates": [ { "allele": "G", "end": 3374, "referenceAllele": "G", "start": 3373 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354278.2:c.3064G=" ], "proteinEffect": { "hgvs": "NP_001341207.1:p.Glu1022=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720385" }, { "coordinates": [ { "allele": "G", "end": 3410, "referenceAllele": "G", "start": 3409 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354279.2:c.3100G=" ], "proteinEffect": { "hgvs": "NP_001341208.1:p.Glu1034=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720386" }, { "coordinates": [ { "allele": "G", "end": 3395, "referenceAllele": "G", "start": 3394 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354280.2:c.3085G=" ], "proteinEffect": { "hgvs": "NP_001341209.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720387" }, { "coordinates": [ { "allele": "G", "end": 3374, "referenceAllele": "G", "start": 3373 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354281.2:c.3064G=" ], "proteinEffect": { "hgvs": "NP_001341210.1:p.Glu1022=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720388" }, { "coordinates": [ { "allele": "G", "end": 3313, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 3313, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354282.2:c.3003+208G=" ], "proteinEffect": { "hgvs": "NP_001341211.1:n.3003+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720389" }, { "coordinates": [ { "allele": "G", "end": 11756, "referenceAllele": "G", "start": 11755 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386142.1:c.11557G=" ], "proteinEffect": { "hgvs": "NP_001373071.1:p.Glu3853=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724420" }, { "coordinates": [ { "allele": "G", "end": 5765, "referenceAllele": "G", "start": 5764 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386143.1:c.5566G=" ], "proteinEffect": { "hgvs": "NP_001373072.1:p.Glu1856=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724421" }, { "coordinates": [ { "allele": "G", "end": 5955, "referenceAllele": "G", "start": 5954 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386144.1:c.5674G=" ], "proteinEffect": { "hgvs": "NP_001373073.1:p.Glu1892=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724422" }, { "coordinates": [ { "allele": "G", "end": 5609, "referenceAllele": "G", "start": 5608 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386146.1:c.5410G=" ], "proteinEffect": { "hgvs": "NP_001373075.1:p.Glu1804=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724424" }, { "coordinates": [ { "allele": "G", "end": 5561, "referenceAllele": "G", "start": 5560 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386147.1:c.5362G=" ], "proteinEffect": { "hgvs": "NP_001373076.1:p.Glu1788=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724425" }, { "coordinates": [ { "allele": "G", "end": 6045, "referenceAllele": "G", "start": 6044 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386148.2:c.5521G=" ], "proteinEffect": { "hgvs": "NP_001373077.1:p.Glu1841=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724426" }, { "coordinates": [ { "allele": "G", "end": 5516, "referenceAllele": "G", "start": 5515 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386149.1:c.5317G=" ], "proteinEffect": { "hgvs": "NP_001373078.1:p.Glu1773=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724427" }, { "coordinates": [ { "allele": "G", "end": 5609, "referenceAllele": "G", "start": 5608 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386150.1:c.5410G=" ], "proteinEffect": { "hgvs": "NP_001373079.1:p.Glu1804=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724428" }, { "coordinates": [ { "allele": "G", "end": 5543, "referenceAllele": "G", "start": 5542 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386151.1:c.5344G=" ], "proteinEffect": { "hgvs": "NP_001373080.1:p.Glu1782=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724429" }, { "coordinates": [ { "allele": "G", "end": 5693, "endIntronDirection": "+", "endIntronOffset": 3576, "referenceAllele": "G", "start": 5693, "startIntronDirection": "+", "startIntronOffset": 3575 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386152.1:c.5412+3576G=" ], "proteinEffect": { "hgvs": "NP_001373081.1:n.5412+3576G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724430" }, { "coordinates": [ { "allele": "G", "end": 5516, "referenceAllele": "G", "start": 5515 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386153.1:c.5317G=" ], "proteinEffect": { "hgvs": "NP_001373082.1:p.Glu1773=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724431" }, { "coordinates": [ { "allele": "G", "end": 5501, "referenceAllele": "G", "start": 5500 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386154.1:c.5302G=" ], "proteinEffect": { "hgvs": "NP_001373083.1:p.Glu1768=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724432" }, { "coordinates": [ { "allele": "G", "end": 5463, "referenceAllele": "G", "start": 5462 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386156.1:c.5275G=" ], "proteinEffect": { "hgvs": "NP_001373085.1:p.Glu1759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724434" }, { "coordinates": [ { "allele": "G", "end": 5351, "referenceAllele": "G", "start": 5350 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386157.1:c.5152G=" ], "proteinEffect": { "hgvs": "NP_001373086.1:p.Glu1718=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724435" }, { "coordinates": [ { "allele": "G", "end": 5241, "referenceAllele": "G", "start": 5240 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386158.1:c.5053G=" ], "proteinEffect": { "hgvs": "NP_001373087.1:p.Glu1685=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724436" }, { "coordinates": [ { "allele": "G", "end": 5579, "referenceAllele": "G", "start": 5578 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386160.1:c.5380G=" ], "proteinEffect": { "hgvs": "NP_001373089.1:p.Glu1794=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724438" }, { "coordinates": [ { "allele": "G", "end": 5561, "referenceAllele": "G", "start": 5560 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386161.1:c.5470G=" ], "proteinEffect": { "hgvs": "NP_001373090.1:p.Glu1824=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724439" }, { "coordinates": [ { "allele": "G", "end": 5441, "endIntronDirection": "+", "endIntronOffset": 208, "referenceAllele": "G", "start": 5441, "startIntronDirection": "+", "startIntronOffset": 207 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386162.1:c.5253+208G=" ], "proteinEffect": { "hgvs": "NP_001373091.1:n.5253+208G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724440" }, { "coordinates": [ { "allele": "G", "end": 8294, "referenceAllele": "G", "start": 8293 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386166.1:c.8191G=" ], "proteinEffect": { "hgvs": "NP_001373095.1:p.Glu2731=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724443" }, { "coordinates": [ { "allele": "G", "end": 2132, "referenceAllele": "G", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386167.1:c.2029G=" ], "proteinEffect": { "hgvs": "NP_001373096.1:p.Glu677=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724444" }, { "coordinates": [ { "allele": "G", "end": 12275, "referenceAllele": "G", "start": 12274 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386174.1:c.12025G=" ], "proteinEffect": { "hgvs": "NP_001373103.1:p.Glu4009=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724449" }, { "coordinates": [ { "allele": "G", "end": 12251, "referenceAllele": "G", "start": 12250 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386175.1:c.12001G=" ], "proteinEffect": { "hgvs": "NP_001373104.1:p.Glu4001=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724450" }, { "coordinates": [ { "allele": "G", "end": 6045, "referenceAllele": "G", "start": 6044 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386186.2:c.5521G=" ], "proteinEffect": { "hgvs": "NP_001373115.1:p.Glu1841=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724456" }, { "coordinates": [ { "allele": "G", "end": 5925, "referenceAllele": "G", "start": 5924 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386187.2:c.5401G=" ], "proteinEffect": { "hgvs": "NP_001373116.1:p.Glu1801=" }, "referenceSequence": "http://reg.genome.network/refseq/RS724457" }, { "coordinates": [ { "allele": "G", "end": 5612, "referenceAllele": "G", "start": 5611 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_020977.5:c.5536G=" ], "proteinEffect": { "hgvs": "NP_066187.2:p.Glu1846=" }, "referenceSequence": "http://reg.genome.network/refseq/RS728492" } ], "type": "nucleotide" }