{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA295401", "communityStandardTitle": [ "NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172227[alleleid]", "alleleId": 172227, "preferredName": "NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162579", "RCV": [ "RCV000779487", "RCV000824022", "RCV000668682", "RCV001781490" ], "variationId": 162579 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-129807757-C-T", "id": "6-129807757-C-T", "variant": "6:129807757 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.129807757C>T?assembly=hg19", "id": "chr6:g.129807757C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.129486612C>T?assembly=hg38", "id": "chr6:g.129486612C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/727502851", "rs": 727502851 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-129807757-C-T?dataset=gnomad_r2_1", "id": "6-129807757-C-T", "variant": "6:129807757 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-129486612-C-T?dataset=gnomad_r3", "id": "6-129486612-C-T", "variant": "6:129486612 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-129486612-C-T?dataset=gnomad_r4", "id": "6-129486612-C-T", "variant": "6:129486612 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 129486612, "referenceAllele": "C", "start": 129486611 } ], "hgvs": [ "NC_000006.12:g.129486612C>T", "CM000668.2:g.129486612C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 129807757, "referenceAllele": "C", "start": 129807756 } ], "hgvs": [ "NC_000006.11:g.129807757C>T", "CM000668.1:g.129807757C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 129849450, "referenceAllele": "C", "start": 129849449 } ], "hgvs": [ "NC_000006.10:g.129849450C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 608472, "referenceAllele": "C", "start": 608471 } ], "hgvs": [ "NG_008678.1:g.608472C>T", "LRG_409:g.608472C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001163" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 7984, "referenceAllele": "C", "start": 7983 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000617695.5:c.7876C>T" ], "proteinEffect": { "hgvs": "ENSP00000481744.2:p.Arg2626Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS826500" }, { "coordinates": [ { "allele": "T", "end": 8260, "referenceAllele": "C", "start": 8259 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000618192.5:c.8152C>T" ], "proteinEffect": { "hgvs": "ENSP00000480802.2:p.Arg2718Ter", "hgvsWellDefined": "ENSP00000480802.2:p.Arg2718_Asn3210delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826507" }, { "coordinates": [ { "allele": "T", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000688198.1:n.866C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831494" }, { "coordinates": [ { "allele": "T", "end": 7996, "referenceAllele": "C", "start": 7995 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000421865.3:c.7888C>T" ], "proteinEffect": { "hgvs": "ENSP00000400365.2:p.Arg2630Ter", "hgvsWellDefined": "ENSP00000400365.2:p.Arg2630_Asn3122delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754907", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000421865.3:c.7888C>T" }, "RefSeq": { "hgvs": "NM_000426.4:c.7888C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400365.2:p.Arg2630Ter" }, "RefSeq": { "hgvs": "NP_000417.3:p.Arg2630Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 7937, "referenceAllele": "C", "start": 7936 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000421865.2:c.7888C>T" ], "proteinEffect": { "hgvs": "ENSP00000400365.2:p.Arg2630Ter", "hgvsWellDefined": "ENSP00000400365.2:p.Arg2630_Asn3122delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287006" }, { "coordinates": [ { "allele": "T", "end": 7981, "referenceAllele": "C", "start": 7980 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000617695.4:c.7876C>T" ], "proteinEffect": { "hgvs": "ENSP00000481744.1:p.Arg2626Ter", "hgvsWellDefined": "ENSP00000481744.1:p.Arg2626_Asn3118delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403589" }, { "coordinates": [ { "allele": "T", "end": 7990, "referenceAllele": "C", "start": 7989 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000618192.4:c.7885C>T" ], "proteinEffect": { "hgvs": "ENSP00000480802.1:p.Arg2629Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS403830" }, { "@id": "http://reg.genome.network/allele/PA295403", "coordinates": [ { "allele": "T", "end": 7993, "referenceAllele": "C", "start": 7992 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "NM_000426.3:c.7888C>T", "LRG_409t1:c.7888C>T" ], "proteinEffect": { "hgvs": "NP_000417.2:p.Arg2630Ter", "hgvsWellDefined": "NP_000417.2:p.Arg2630_Asn3122delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006488" }, { "coordinates": [ { "allele": "T", "end": 7981, "referenceAllele": "C", "start": 7980 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "NM_001079823.1:c.7876C>T" ], "proteinEffect": { "hgvs": "NP_001073291.1:p.Arg2626Ter", "hgvsWellDefined": "NP_001073291.1:p.Arg2626_Asn3118delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010103" }, { "coordinates": [ { "allele": "T", "end": 8257, "referenceAllele": "C", "start": 8256 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_005266981.2:c.8152C>T" ], "proteinEffect": { "hgvs": "XP_005267038.1:p.Arg2718Ter", "hgvsWellDefined": "XP_005267038.1:p.Arg2718_Asn3210delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065254" }, { "coordinates": [ { "allele": "T", "end": 8245, "referenceAllele": "C", "start": 8244 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_005266982.2:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_005267039.1:p.Arg2714Ter", "hgvsWellDefined": "XP_005267039.1:p.Arg2714_Asn3206delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065255" }, { "coordinates": [ { "allele": "T", "end": 8251, "referenceAllele": "C", "start": 8250 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_011535820.1:c.8146C>T" ], "proteinEffect": { "hgvs": "XP_011534122.1:p.Arg2716Ter", "hgvsWellDefined": "XP_011534122.1:p.Arg2716_Asn3208delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102822" }, { "coordinates": [ { "allele": "T", "end": 8257, "referenceAllele": "C", "start": 8256 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_005266981.3:c.8152C>T" ], "proteinEffect": { "hgvs": "XP_005267038.1:p.Arg2718Ter", "hgvsWellDefined": "XP_005267038.1:p.Arg2718_Asn3210delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536330" }, { "coordinates": [ { "allele": "T", "end": 8245, "referenceAllele": "C", "start": 8244 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_005266982.3:c.8140C>T" ], "proteinEffect": { "hgvs": "XP_005267039.1:p.Arg2714Ter", "hgvsWellDefined": "XP_005267039.1:p.Arg2714_Asn3206delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536331" }, { "coordinates": [ { "allele": "T", "end": 8251, "referenceAllele": "C", "start": 8250 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_011535820.2:c.8146C>T" ], "proteinEffect": { "hgvs": "XP_011534122.1:p.Arg2716Ter", "hgvsWellDefined": "XP_011534122.1:p.Arg2716_Asn3208delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552197" }, { "coordinates": [ { "allele": "T", "end": 10646, "referenceAllele": "C", "start": 10645 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_017010851.2:c.8158C>T" ], "proteinEffect": { "hgvs": "XP_016866340.1:p.Arg2720Ter", "hgvsWellDefined": "XP_016866340.1:p.Arg2720_Asn3212delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564816" }, { "coordinates": [ { "allele": "T", "end": 9534, "referenceAllele": "C", "start": 9533 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_017010852.1:c.6283C>T" ], "proteinEffect": { "hgvs": "XP_016866341.1:p.Arg2095Ter", "hgvsWellDefined": "XP_016866341.1:p.Arg2095_Asn2587delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564817" }, { "@id": "http://reg.genome.network/allele/PA2573062568", "coordinates": [ { "allele": "T", "end": 7996, "referenceAllele": "C", "start": 7995 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "NM_000426.4:c.7888C>T" ], "proteinEffect": { "hgvs": "NP_000417.3:p.Arg2630Ter", "hgvsWellDefined": "NP_000417.3:p.Arg2630_Asn3122delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674842", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000421865.3:c.7888C>T" }, "RefSeq": { "hgvs": "NM_000426.4:c.7888C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400365.2:p.Arg2630Ter" }, "RefSeq": { "hgvs": "NP_000417.3:p.Arg2630Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825454185", "coordinates": [ { "allele": "T", "end": 7984, "referenceAllele": "C", "start": 7983 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "NM_001079823.2:c.7876C>T" ], "proteinEffect": { "hgvs": "NP_001073291.2:p.Arg2626Ter", "hgvsWellDefined": "NP_001073291.2:p.Arg2626_Asn3118delinsThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676226" } ], "type": "nucleotide" }