{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA186019", "communityStandardTitle": [ "NM_001743.6(CALM2):c.287A>T (p.Asp96Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181366[alleleid]", "alleleId": 181366, "preferredName": "NM_001743.6(CALM2):c.287A>T (p.Asp96Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183233", "RCV": [ "RCV000162065", "RCV001547926", "RCV001850284" ], "variationId": 183233 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47388996T>A?assembly=hg19", "id": "chr2:g.47388996T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47161857T>A?assembly=hg38", "id": "chr2:g.47161857T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/730882254", "rs": 730882254 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47161857, "referenceAllele": "T", "start": 47161856 } ], "hgvs": [ "NC_000002.12:g.47161857T>A", "CM000664.2:g.47161857T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47388996, "referenceAllele": "T", "start": 47388995 } ], "hgvs": [ "NC_000002.11:g.47388996T>A", "CM000664.1:g.47388996T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47242500, "referenceAllele": "T", "start": 47242499 } ], "hgvs": [ "NC_000002.10:g.47242500T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 20080, "referenceAllele": "A", "start": 20079 } ], "hgvs": [ "NG_042065.1:g.20080A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005920" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "A", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000272298.12:c.287A>T" ], "proteinEffect": { "hgvs": "ENSP00000272298.7:p.Asp96Val", "hgvsWellDefined": "ENSP00000272298.7:p.Asp96Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS743233", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272298.12:c.287A>T" }, "RefSeq": { "hgvs": "NM_001743.6:c.287A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272298.7:p.Asp96Val" }, "RefSeq": { "hgvs": "NP_001734.1:p.Asp96Val" } } } }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "A", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000456319.6:c.179A>T" ], "proteinEffect": { "hgvs": "ENSP00000411440.2:p.Asp60Val", "hgvsWellDefined": "ENSP00000411440.2:p.Asp60Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS756554" }, { "coordinates": [ { "allele": "T", "end": 467, "referenceAllele": "A", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000652974.1:c.*271A>T" ], "proteinEffect": { "hgvs": "ENSP00000499369.1:n.*271A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS772404" }, { "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "A", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000655450.1:c.179A>T" ], "proteinEffect": { "hgvs": "ENSP00000499266.1:p.Asp60Val", "hgvsWellDefined": "ENSP00000499266.1:p.Asp60Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS772501" }, { "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "A", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000655728.1:c.179A>T" ], "proteinEffect": { "hgvs": "ENSP00000499656.1:p.Asp60Val", "hgvsWellDefined": "ENSP00000499656.1:p.Asp60Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS772510" }, { "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "A", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000656538.1:c.179A>T" ], "proteinEffect": { "hgvs": "ENSP00000499357.1:p.Asp60Val", "hgvsWellDefined": "ENSP00000499357.1:p.Asp60Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS772543" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "A", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000668667.1:c.179A>T" ], "proteinEffect": { "hgvs": "ENSP00000499706.1:p.Asp60Val", "hgvsWellDefined": "ENSP00000499706.1:p.Asp60Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS773037" }, { "coordinates": [ { "allele": "T", "end": 1192, "referenceAllele": "A", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000670593.1:n.1192A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773108" }, { "coordinates": [ { "allele": "T", "end": 445, "referenceAllele": "A", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000272298.11:c.287A>T" ], "proteinEffect": { "hgvs": "ENSP00000272298.7:p.Asp96Val", "hgvsWellDefined": "ENSP00000272298.7:p.Asp96Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS252358" }, { "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "A", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000409563.5:c.428A>T" ], "proteinEffect": { "hgvs": "ENSP00000387065.1:p.Asp143Val", "hgvsWellDefined": "ENSP00000387065.1:p.Asp143Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS281658" }, { "coordinates": [ { "allele": "T", "end": 102, "endIntronDirection": "-", "endIntronOffset": 8840, "referenceAllele": "A", "start": 102, "startIntronDirection": "-", "startIntronOffset": 8841 } ], "hgvs": [ "ENST00000422269.1:c.103-8841A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS287191" }, { "coordinates": [ { "allele": "T", "end": 237, "referenceAllele": "A", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000432899.5:c.180A>T" ], "proteinEffect": { "hgvs": "ENSP00000406112.1:p.Gly60=" }, "referenceSequence": "http://reg.genome.network/refseq/RS292292" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "A", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000456319.5:c.401A>T" ], "proteinEffect": { "hgvs": "ENSP00000411440.1:p.Asp134Val", "hgvsWellDefined": "ENSP00000411440.1:p.Asp134Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS303433" }, { "coordinates": [ { "allele": "T", "end": 3727, "referenceAllele": "A", "start": 3726 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000460218.5:n.3727A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS305004" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "A", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000482532.5:n.1554A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322199" }, { "coordinates": [ { "allele": "T", "end": 548, "referenceAllele": "A", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000484408.5:n.548A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS323668" }, { "coordinates": [ { "allele": "T", "end": 323, "endIntronDirection": "-", "endIntronOffset": 76, "referenceAllele": "A", "start": 323, "startIntronDirection": "-", "startIntronOffset": 77 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "ENST00000628793.2:c.166-77A>T" ], "proteinEffect": { "hgvs": "ENSP00000486952.1:n.166-77A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS407108" }, { "@id": "http://reg.genome.network/allele/PA2826906499", "coordinates": [ { "allele": "T", "end": 513, "referenceAllele": "A", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001305624.1:c.431A>T" ], "proteinEffect": { "hgvs": "NP_001292553.1:p.Asp144Val", "hgvsWellDefined": "NP_001292553.1:p.Asp144Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS025951" }, { "@id": "http://reg.genome.network/allele/PA186020", "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "A", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001305625.1:c.179A>T" ], "proteinEffect": { "hgvs": "NP_001292554.1:p.Asp60Val", "hgvsWellDefined": "NP_001292554.1:p.Asp60Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS025952" }, { "@id": "http://reg.genome.network/allele/PA2826906599", "coordinates": [ { "allele": "T", "end": 3727, "referenceAllele": "A", "start": 3726 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001305626.1:c.179A>T" ], "proteinEffect": { "hgvs": "NP_001292555.1:p.Asp60Val", "hgvsWellDefined": "NP_001292555.1:p.Asp60Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS025953" }, { "@id": "http://reg.genome.network/allele/PA186021", "coordinates": [ { "allele": "T", "end": 445, "referenceAllele": "A", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001743.4:c.287A>T" ], "proteinEffect": { "hgvs": "NP_001734.1:p.Asp96Val", "hgvsWellDefined": "NP_001734.1:p.Asp96Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS027077" }, { "@id": "http://reg.genome.network/allele/PA186021", "coordinates": [ { "allele": "T", "end": 467, "referenceAllele": "A", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001743.5:c.287A>T" ], "proteinEffect": { "hgvs": "NP_001734.1:p.Asp96Val", "hgvsWellDefined": "NP_001734.1:p.Asp96Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS027078" }, { "@id": "http://reg.genome.network/allele/PA186021", "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "A", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001743.6:c.287A>T" ], "proteinEffect": { "hgvs": "NP_001734.1:p.Asp96Val", "hgvsWellDefined": "NP_001734.1:p.Asp96Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS665146", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272298.12:c.287A>T" }, "RefSeq": { "hgvs": "NM_001743.6:c.287A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272298.7:p.Asp96Val" }, "RefSeq": { "hgvs": "NP_001734.1:p.Asp96Val" } } } }, { "@id": "http://reg.genome.network/allele/PA186020", "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "A", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN001445", "geneNCBI_id": 805, "geneSymbol": "CALM2", "hgvs": [ "NM_001305625.2:c.179A>T" ], "proteinEffect": { "hgvs": "NP_001292554.1:p.Asp60Val", "hgvsWellDefined": "NP_001292554.1:p.Asp60Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS717157" } ], "type": "nucleotide" }