{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381649855", "communityStandardTitle": [ "NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1332778[alleleid]", "alleleId": 1332778, "preferredName": "NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1341529", "RCV": [ "RCV001837045" ], "variationId": 1341529 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68701307T>C?assembly=hg19", "id": "chr11:g.68701307T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68933839T>C?assembly=hg38", "id": "chr11:g.68933839T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2154008646", "rs": 2154008646 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "C", "end": 68933839, "referenceAllele": "T", "start": 68933838 } ], "hgvs": [ "NC_000011.10:g.68933839T>C", "CM000673.2:g.68933839T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "C", "end": 68701307, "referenceAllele": "T", "start": 68701306 } ], "hgvs": [ "NC_000011.9:g.68701307T>C", "CM000673.1:g.68701307T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "C", "end": 68457883, "referenceAllele": "T", "start": 68457882 } ], "hgvs": [ "NC_000011.8:g.68457883T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "C", "end": 34989, "referenceAllele": "T", "start": 34988 } ], "hgvs": [ "NG_007976.1:g.34989T>C", "LRG_250:g.34989T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000744" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1525, "referenceAllele": "T", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.8:c.1463T>C" ], "proteinEffect": { "hgvs": "ENSP00000255078.4:p.Leu488Pro", "hgvsWellDefined": "ENSP00000255078.4:p.Leu488Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS741702", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.1463T>C" }, "RefSeq": { "hgvs": "NM_002180.3:c.1463T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Leu488Pro" }, "RefSeq": { "hgvs": "NP_002171.2:p.Leu488Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 1595, "referenceAllele": "T", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674955.1:c.*180T>C" ], "proteinEffect": { "hgvs": "ENSP00000502463.1:n.*180T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS774837" }, { "coordinates": [ { "allele": "C", "end": 951, "referenceAllele": "T", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675118.1:c.951T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS774984" }, { "coordinates": [ { "allele": "C", "end": 183, "endIntronDirection": "+", "endIntronOffset": 358, "referenceAllele": "T", "start": 183, "startIntronDirection": "+", "startIntronOffset": 357 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675205.1:n.183+358T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS775059" }, { "coordinates": [ { "allele": "C", "end": 1553, "referenceAllele": "T", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675615.1:c.1463T>C" ], "proteinEffect": { "hgvs": "ENSP00000502413.1:p.Leu488Pro", "hgvsWellDefined": "ENSP00000502413.1:p.Leu488Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS775408" }, { "coordinates": [ { "allele": "C", "end": 838, "referenceAllele": "T", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675648.1:n.838T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS775440" }, { "coordinates": [ { "allele": "C", "end": 112, "endIntronDirection": "-", "endIntronOffset": 624, "referenceAllele": "T", "start": 112, "startIntronDirection": "-", "startIntronOffset": 625 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675997.1:n.113-625T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS775740" }, { "coordinates": [ { "allele": "C", "end": 2208, "referenceAllele": "T", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676173.1:n.2208T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS775893" }, { "coordinates": [ { "allele": "C", "end": 1455, "referenceAllele": "T", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676228.1:c.*786T>C" ], "proteinEffect": { "hgvs": "ENSP00000502375.1:n.*786T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS775942" }, { "coordinates": [ { "allele": "C", "end": 1574, "referenceAllele": "T", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.7:c.1463T>C" ], "proteinEffect": { "hgvs": "ENSP00000255078.3:p.Leu488Pro", "hgvsWellDefined": "ENSP00000255078.3:p.Leu488Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS250071" }, { "coordinates": [ { "allele": "C", "end": 580, "referenceAllele": "T", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000537458.5:n.580T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS360783" }, { "coordinates": [ { "allele": "C", "end": 1222, "referenceAllele": "T", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000539064.5:n.1222T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS361658" }, { "coordinates": [ { "allele": "C", "end": 158, "referenceAllele": "T", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000541229.5:n.158T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS362823" }, { "coordinates": [ { "allele": "C", "end": 580, "referenceAllele": "T", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000543739.5:n.580T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS364173" }, { "@id": "http://reg.genome.network/allele/PA2573081631", "coordinates": [ { "allele": "C", "end": 1565, "referenceAllele": "T", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.2:c.1463T>C", "LRG_250t1:c.1463T>C" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Leu488Pro", "hgvsWellDefined": "NP_002171.2:p.Leu488Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS027500" }, { "coordinates": [ { "allele": "C", "end": 1529, "referenceAllele": "T", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273974.2:c.452T>C" ], "proteinEffect": { "hgvs": "XP_005274031.1:p.Leu151Pro", "hgvsWellDefined": "XP_005274031.1:p.Leu151Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS067782" }, { "coordinates": [ { "allele": "C", "end": 572, "referenceAllele": "T", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273975.2:c.335T>C" ], "proteinEffect": { "hgvs": "XP_005274032.1:p.Leu112Pro", "hgvsWellDefined": "XP_005274032.1:p.Leu112Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS067783" }, { "coordinates": [ { "allele": "C", "end": 1047, "referenceAllele": "T", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_011544994.1:c.230T>C" ], "proteinEffect": { "hgvs": "XP_011543296.1:p.Leu77Pro", "hgvsWellDefined": "XP_011543296.1:p.Leu77Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS111901" }, { "coordinates": [ { "allele": "C", "end": 1565, "referenceAllele": "T", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.1:n.1565T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS143242" }, { "coordinates": [ { "allele": "C", "end": 660, "referenceAllele": "T", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273975.3:c.335T>C" ], "proteinEffect": { "hgvs": "XP_005274032.1:p.Leu112Pro", "hgvsWellDefined": "XP_005274032.1:p.Leu112Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS537533" }, { "coordinates": [ { "allele": "C", "end": 1411, "referenceAllele": "T", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017669.2:c.452T>C" ], "proteinEffect": { "hgvs": "XP_016873158.1:p.Leu151Pro", "hgvsWellDefined": "XP_016873158.1:p.Leu151Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS569798" }, { "coordinates": [ { "allele": "C", "end": 2284, "referenceAllele": "T", "start": 2283 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017670.2:c.452T>C" ], "proteinEffect": { "hgvs": "XP_016873159.1:p.Leu151Pro", "hgvsWellDefined": "XP_016873159.1:p.Leu151Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS569799" }, { "coordinates": [ { "allele": "C", "end": 1561, "referenceAllele": "T", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017671.2:c.1463T>C" ], "proteinEffect": { "hgvs": "XP_016873160.1:p.Leu488Pro", "hgvsWellDefined": "XP_016873160.1:p.Leu488Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS569800" }, { "coordinates": [ { "allele": "C", "end": 1561, "referenceAllele": "T", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.3:n.1561T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS615424" }, { "@id": "http://reg.genome.network/allele/PA2573081631", "coordinates": [ { "allele": "C", "end": 1525, "referenceAllele": "T", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.3:c.1463T>C" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Leu488Pro", "hgvsWellDefined": "NP_002171.2:p.Leu488Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS695474", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.1463T>C" }, "RefSeq": { "hgvs": "NM_002180.3:c.1463T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Leu488Pro" }, "RefSeq": { "hgvs": "NP_002171.2:p.Leu488Pro" } } } } ], "type": "nucleotide" }