{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381647464", "communityStandardTitle": [ "NM_002180.3(IGHMBP2):c.1107C>A (p.Phe369Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68696697C>A?assembly=hg19", "id": "chr11:g.68696697C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68929229C>A?assembly=hg38", "id": "chr11:g.68929229C>A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68929229, "referenceAllele": "C", "start": 68929228 } ], "hgvs": [ "NC_000011.10:g.68929229C>A", "CM000673.2:g.68929229C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68696697, "referenceAllele": "C", "start": 68696696 } ], "hgvs": [ "NC_000011.9:g.68696697C>A", "CM000673.1:g.68696697C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68453273, "referenceAllele": "C", "start": 68453272 } ], "hgvs": [ "NC_000011.8:g.68453273C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 30379, "referenceAllele": "C", "start": 30378 } ], "hgvs": [ "NG_007976.1:g.30379C>A", "LRG_250:g.30379C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000744" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1169, "referenceAllele": "C", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.8:c.1107C>A" ], "proteinEffect": { "hgvs": "ENSP00000255078.4:p.Phe369Leu", "hgvsWellDefined": "ENSP00000255078.4:p.Phe369Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS741702", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.1107C>A" }, "RefSeq": { "hgvs": "NM_002180.3:c.1107C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Phe369Leu" }, "RefSeq": { "hgvs": "NP_002171.2:p.Phe369Leu" } } } }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "C", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674698.1:n.47C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774625" }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "C", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674745.1:c.272C>A" ], "proteinEffect": { "hgvs": "ENSP00000502738.1:n.272C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774666" }, { "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674775.1:n.307C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774690" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674955.1:c.1107C>A" ], "proteinEffect": { "hgvs": "ENSP00000502463.1:p.Phe369Leu", "hgvsWellDefined": "ENSP00000502463.1:p.Phe369Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774837" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675118.1:c.595C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774984" }, { "coordinates": [ { "allele": "A", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675305.1:c.427C>A" ], "proteinEffect": { "hgvs": "ENSP00000502365.1:n.427C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775142" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "C", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675310.1:n.47C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775146" }, { "coordinates": [ { "allele": "A", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675493.1:n.268C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775308" }, { "coordinates": [ { "allele": "A", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675615.1:c.1107C>A" ], "proteinEffect": { "hgvs": "ENSP00000502413.1:p.Phe369Leu", "hgvsWellDefined": "ENSP00000502413.1:p.Phe369Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775408" }, { "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675648.1:n.482C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775440" }, { "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "C", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675684.1:c.234C>A" ], "proteinEffect": { "hgvs": "ENSP00000502192.1:p.Phe78Leu", "hgvsWellDefined": "ENSP00000502192.1:p.Phe78Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775470" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "C", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675755.1:n.47C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775533" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "C", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676083.1:n.47C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775817" }, { "coordinates": [ { "allele": "A", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676173.1:n.1151C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775893" }, { "coordinates": [ { "allele": "A", "end": 1099, "referenceAllele": "C", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676228.1:c.*430C>A" ], "proteinEffect": { "hgvs": "ENSP00000502375.1:n.*430C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775942" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "C", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676240.1:n.47C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775952" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "C", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676400.1:n.47C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776087" }, { "coordinates": [ { "allele": "A", "end": 1218, "referenceAllele": "C", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.7:c.1107C>A" ], "proteinEffect": { "hgvs": "ENSP00000255078.3:p.Phe369Leu", "hgvsWellDefined": "ENSP00000255078.3:p.Phe369Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS250071" }, { "coordinates": [ { "allele": "A", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000568742.1:n.217C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS380992" }, { "@id": "http://reg.genome.network/allele/PA103493", "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.2:c.1107C>A", "LRG_250t1:c.1107C>A" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Phe369Leu", "hgvsWellDefined": "NP_002171.2:p.Phe369Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS027500" }, { "coordinates": [ { "allele": "A", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273974.2:c.96C>A" ], "proteinEffect": { "hgvs": "XP_005274031.1:p.Phe32Leu", "hgvsWellDefined": "XP_005274031.1:p.Phe32Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS067782" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.1:c.1107C>A" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Phe369Leu", "hgvsWellDefined": "XP_005274033.1:p.Phe369Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS067784" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_247198.1:n.1209C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117297" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.1:n.1209C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143242" }, { "coordinates": [ { "allele": "A", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.2:c.1107C>A" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Phe369Leu", "hgvsWellDefined": "XP_005274033.1:p.Phe369Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS537534" }, { "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017669.2:c.96C>A" ], "proteinEffect": { "hgvs": "XP_016873158.1:p.Phe32Leu", "hgvsWellDefined": "XP_016873158.1:p.Phe32Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS569798" }, { "coordinates": [ { "allele": "A", "end": 1928, "referenceAllele": "C", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017670.2:c.96C>A" ], "proteinEffect": { "hgvs": "XP_016873159.1:p.Phe32Leu", "hgvsWellDefined": "XP_016873159.1:p.Phe32Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS569799" }, { "coordinates": [ { "allele": "A", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017671.2:c.1107C>A" ], "proteinEffect": { "hgvs": "XP_016873160.1:p.Phe369Leu", "hgvsWellDefined": "XP_016873160.1:p.Phe369Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS569800" }, { "coordinates": [ { "allele": "A", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.3:n.1205C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615424" }, { "@id": "http://reg.genome.network/allele/PA103493", "coordinates": [ { "allele": "A", "end": 1169, "referenceAllele": "C", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.3:c.1107C>A" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Phe369Leu", "hgvsWellDefined": "NP_002171.2:p.Phe369Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS695474", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.1107C>A" }, "RefSeq": { "hgvs": "NM_002180.3:c.1107C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Phe369Leu" }, "RefSeq": { "hgvs": "NP_002171.2:p.Phe369Leu" } } } } ], "type": "nucleotide" }