{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2495693333", "communityStandardTitle": [ "NM_001743.6(CALM2):c.407A= (p.Gln136=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398124649", "rs": 398124649 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47161737, "referenceAllele": "T", "start": 47161736 } ], "hgvs": [ "NC_000002.12:g.47161737T=", "CM000664.2:g.47161737T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47388876, "referenceAllele": "T", "start": 47388875 } ], "hgvs": [ "NC_000002.11:g.47388876T=", "CM000664.1:g.47388876T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47242380, "referenceAllele": "T", "start": 47242379 } ], "hgvs": [ "NC_000002.10:g.47242380T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 20200, "referenceAllele": "A", "start": 20199 } ], "hgvs": [ "NG_042065.1:g.20200A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS005920" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "A", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000272298.12:c.407A=" ], "proteinEffect": { "hgvs": "ENSP00000272298.7:p.Gln136=" }, "referenceSequence": "http://reg.genome.network/refseq/RS743233", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272298.12:c.407A=" }, "RefSeq": { "hgvs": "NM_001743.6:c.407A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272298.7:p.Gln136=" }, "RefSeq": { "hgvs": "NP_001734.1:p.Gln136=" } } } }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "A", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000456319.6:c.299A=" ], "proteinEffect": { "hgvs": "ENSP00000411440.2:p.Gln100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756554" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "A", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000652974.1:c.*391A=" ], "proteinEffect": { "hgvs": "ENSP00000499369.1:n.*391A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772404" }, { "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "A", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000655450.1:c.299A=" ], "proteinEffect": { "hgvs": "ENSP00000499266.1:p.Gln100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772501" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "A", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000655728.1:c.299A=" ], "proteinEffect": { "hgvs": "ENSP00000499656.1:p.Gln100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772510" }, { "coordinates": [ { "allele": "A", "end": 680, "referenceAllele": "A", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000656538.1:c.299A=" ], "proteinEffect": { "hgvs": "ENSP00000499357.1:p.Gln100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772543" }, { "coordinates": [ { "allele": "A", "end": 707, "referenceAllele": "A", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000668667.1:c.299A=" ], "proteinEffect": { "hgvs": "ENSP00000499706.1:p.Gln100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS773037" }, { "coordinates": [ { "allele": "A", "end": 1312, "referenceAllele": "A", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000670593.1:n.1312A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS773108" }, { "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "A", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000272298.11:c.407A=" ], "proteinEffect": { "hgvs": "ENSP00000272298.7:p.Gln136=" }, "referenceSequence": "http://reg.genome.network/refseq/RS252358" }, { "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "A", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000409563.5:c.548A=" ], "proteinEffect": { "hgvs": "ENSP00000387065.1:p.Gln183=" }, "referenceSequence": "http://reg.genome.network/refseq/RS281658" }, { "coordinates": [ { "allele": "A", "end": 102, "endIntronDirection": "-", "endIntronOffset": 8720, "referenceAllele": "A", "start": 102, "startIntronDirection": "-", "startIntronOffset": 8721 } ], "hgvs": [ "ENST00000422269.1:c.103-8721A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS287191" }, { "coordinates": [ { "allele": "A", "end": 357, "referenceAllele": "A", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000432899.5:c.*102A=" ], "proteinEffect": { "hgvs": "ENSP00000406112.1:n.*102A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS292292" }, { "coordinates": [ { "allele": "A", "end": 521, "referenceAllele": "A", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000456319.5:c.521A=" ], "proteinEffect": { "hgvs": "ENSP00000411440.1:p.Gln174=" }, "referenceSequence": "http://reg.genome.network/refseq/RS303433" }, { "coordinates": [ { "allele": "A", "end": 3847, "referenceAllele": "A", "start": 3846 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000460218.5:n.3847A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS305004" }, { "coordinates": [ { "allele": "A", "end": 1674, "referenceAllele": "A", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000482532.5:n.1674A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS322199" }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000484408.5:n.668A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS323668" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "A", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000628793.2:c.209A=" ], "proteinEffect": { "hgvs": "ENSP00000486952.1:p.Gln70=" }, "referenceSequence": "http://reg.genome.network/refseq/RS407108" }, { "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "A", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001305624.1:c.551A=" ], "proteinEffect": { "hgvs": "NP_001292553.1:p.Gln184=" }, "referenceSequence": "http://reg.genome.network/refseq/RS025951" }, { "coordinates": [ { "allele": "A", "end": 492, "referenceAllele": "A", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001305625.1:c.299A=" ], "proteinEffect": { "hgvs": "NP_001292554.1:p.Gln100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS025952" }, { "coordinates": [ { "allele": "A", "end": 3847, "referenceAllele": "A", "start": 3846 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001305626.1:c.299A=" ], "proteinEffect": { "hgvs": "NP_001292555.1:p.Gln100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS025953" }, { "@id": "http://reg.genome.network/allele/PA3066671749", "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "A", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001743.4:c.407A=" ], "proteinEffect": { "hgvs": "NP_001734.1:p.Gln136=" }, "referenceSequence": "http://reg.genome.network/refseq/RS027077" }, { "@id": "http://reg.genome.network/allele/PA3066671749", "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "A", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001743.5:c.407A=" ], "proteinEffect": { "hgvs": "NP_001734.1:p.Gln136=" }, "referenceSequence": "http://reg.genome.network/refseq/RS027078" }, { "@id": "http://reg.genome.network/allele/PA3066671749", "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "A", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001743.6:c.407A=" ], "proteinEffect": { "hgvs": "NP_001734.1:p.Gln136=" }, "referenceSequence": "http://reg.genome.network/refseq/RS665146", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272298.12:c.407A=" }, "RefSeq": { "hgvs": "NM_001743.6:c.407A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272298.7:p.Gln136=" }, "RefSeq": { "hgvs": "NP_001734.1:p.Gln136=" } } } }, { "coordinates": [ { "allele": "A", "end": 492, "referenceAllele": "A", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001305625.2:c.299A=" ], "proteinEffect": { "hgvs": "NP_001292554.1:p.Gln100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS717157" } ], "type": "nucleotide" }