{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6154036", "communityStandardTitle": [ "NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244696[alleleid]", "alleleId": 244696, "preferredName": "NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/246570", "RCV": [ "RCV000236700", "RCV000292250", "RCV000556244", "RCV001173347", "RCV002436064" ], "variationId": 246570 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-68707054-G-A", "id": "11-68707054-G-A", "variant": "11:68707054 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68707054G>A?assembly=hg19", "id": "chr11:g.68707054G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68939586G>A?assembly=hg38", "id": "chr11:g.68939586G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/149824485", "rs": 149824485 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68707054-G-A?dataset=gnomad_r2_1", "id": "11-68707054-G-A", "variant": "11:68707054 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68939586-G-A?dataset=gnomad_r3", "id": "11-68939586-G-A", "variant": "11:68939586 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68939586-G-A?dataset=gnomad_r4", "id": "11-68939586-G-A", "variant": "11:68939586 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68939586, "referenceAllele": "G", "start": 68939585 } ], "hgvs": [ "NC_000011.10:g.68939586G>A", "CM000673.2:g.68939586G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68707054, "referenceAllele": "G", "start": 68707053 } ], "hgvs": [ "NC_000011.9:g.68707054G>A", "CM000673.1:g.68707054G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68463630, "referenceAllele": "G", "start": 68463629 } ], "hgvs": [ "NC_000011.8:g.68463630G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 40736, "referenceAllele": "G", "start": 40735 } ], "hgvs": [ "NG_007976.1:g.40736G>A", "LRG_250:g.40736G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000744" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2899, "referenceAllele": "G", "start": 2898 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.8:c.2837G>A" ], "proteinEffect": { "hgvs": "ENSP00000255078.4:p.Arg946Gln", "hgvsWellDefined": "ENSP00000255078.4:p.Arg946Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS741702", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.2837G>A" }, "RefSeq": { "hgvs": "NM_002180.3:c.2837G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Arg946Gln" }, "RefSeq": { "hgvs": "NP_002171.2:p.Arg946Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2325, "referenceAllele": "G", "start": 2324 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675118.1:c.2325G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774984" }, { "coordinates": [ { "allele": "A", "end": 2754, "referenceAllele": "G", "start": 2753 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675615.1:c.*36G>A" ], "proteinEffect": { "hgvs": "ENSP00000502413.1:n.*36G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775408" }, { "coordinates": [ { "allele": "A", "end": 2399, "referenceAllele": "G", "start": 2398 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675648.1:n.2399G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775440" }, { "coordinates": [ { "allele": "A", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675916.1:c.1268G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775673" }, { "coordinates": [ { "allele": "A", "end": 3582, "referenceAllele": "G", "start": 3581 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676173.1:n.3582G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775893" }, { "coordinates": [ { "allele": "A", "end": 2948, "referenceAllele": "G", "start": 2947 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.7:c.2837G>A" ], "proteinEffect": { "hgvs": "ENSP00000255078.3:p.Arg946Gln", "hgvsWellDefined": "ENSP00000255078.3:p.Arg946Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS250071" }, { "coordinates": [ { "allele": "A", "end": 1830, "referenceAllele": "G", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000543739.5:n.1830G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS364173" }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "G", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000544521.1:n.668G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS364617" }, { "@id": "http://reg.genome.network/allele/PA645483314", "coordinates": [ { "allele": "A", "end": 2939, "referenceAllele": "G", "start": 2938 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.2:c.2837G>A", "LRG_250t1:c.2837G>A" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Arg946Gln", "hgvsWellDefined": "NP_002171.2:p.Arg946Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS027500" }, { "coordinates": [ { "allele": "A", "end": 2903, "referenceAllele": "G", "start": 2902 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273974.2:c.1826G>A" ], "proteinEffect": { "hgvs": "XP_005274031.1:p.Arg609Gln", "hgvsWellDefined": "XP_005274031.1:p.Arg609Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS067782" }, { "coordinates": [ { "allele": "A", "end": 1946, "referenceAllele": "G", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273975.2:c.1709G>A" ], "proteinEffect": { "hgvs": "XP_005274032.1:p.Arg570Gln", "hgvsWellDefined": "XP_005274032.1:p.Arg570Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS067783" }, { "coordinates": [ { "allele": "A", "end": 2421, "referenceAllele": "G", "start": 2420 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_011544994.1:c.1604G>A" ], "proteinEffect": { "hgvs": "XP_011543296.1:p.Arg535Gln", "hgvsWellDefined": "XP_011543296.1:p.Arg535Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS111901" }, { "coordinates": [ { "allele": "A", "end": 3126, "referenceAllele": "G", "start": 3125 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.1:n.3126G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143242" }, { "coordinates": [ { "allele": "A", "end": 2034, "referenceAllele": "G", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273975.3:c.1709G>A" ], "proteinEffect": { "hgvs": "XP_005274032.1:p.Arg570Gln", "hgvsWellDefined": "XP_005274032.1:p.Arg570Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS537533" }, { "coordinates": [ { "allele": "A", "end": 2785, "referenceAllele": "G", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017669.2:c.1826G>A" ], "proteinEffect": { "hgvs": "XP_016873158.1:p.Arg609Gln", "hgvsWellDefined": "XP_016873158.1:p.Arg609Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569798" }, { "coordinates": [ { "allele": "A", "end": 3658, "referenceAllele": "G", "start": 3657 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017670.2:c.1826G>A" ], "proteinEffect": { "hgvs": "XP_016873159.1:p.Arg609Gln", "hgvsWellDefined": "XP_016873159.1:p.Arg609Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS569799" }, { "coordinates": [ { "allele": "A", "end": 3122, "referenceAllele": "G", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.3:n.3122G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615424" }, { "@id": "http://reg.genome.network/allele/PA645483314", "coordinates": [ { "allele": "A", "end": 2899, "referenceAllele": "G", "start": 2898 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.3:c.2837G>A" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Arg946Gln", "hgvsWellDefined": "NP_002171.2:p.Arg946Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS695474", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.2837G>A" }, "RefSeq": { "hgvs": "NM_002180.3:c.2837G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Arg946Gln" }, "RefSeq": { "hgvs": "NP_002171.2:p.Arg946Gln" } } } } ], "type": "nucleotide" }