{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9090854", "communityStandardTitle": [ "NM_030662.4(MAP2K2):c.692G>A (p.Arg231His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=533045[alleleid]", "alleleId": 533045, "preferredName": "NM_030662.4(MAP2K2):c.692G>A (p.Arg231His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/543999", "RCV": [ "RCV000654976", "RCV000788005", "RCV001797120" ], "variationId": 543999 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-4101030-C-T", "id": "19-4101030-C-T", "variant": "19:4101030 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.4101030C>T?assembly=hg19", "id": "chr19:g.4101030C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.4101032C>T?assembly=hg38", "id": "chr19:g.4101032C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/730880511", "rs": 730880511 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-4101030-C-T?dataset=gnomad_r2_1", "id": "19-4101030-C-T", "variant": "19:4101030 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-4101032-C-T?dataset=gnomad_r3", "id": "19-4101032-C-T", "variant": "19:4101032 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-4101032-C-T?dataset=gnomad_r4", "id": "19-4101032-C-T", "variant": "19:4101032 C / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 4101032, "referenceAllele": "C", "start": 4101031 } ], "hgvs": [ "NC_000019.10:g.4101032C>T", "CM000681.2:g.4101032C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 4101030, "referenceAllele": "C", "start": 4101029 } ], "hgvs": [ "NC_000019.9:g.4101030C>T", "CM000681.1:g.4101030C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 4052030, "referenceAllele": "C", "start": 4052029 } ], "hgvs": [ "NC_000019.8:g.4052030C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 28097, "referenceAllele": "G", "start": 28096 } ], "hgvs": [ "NG_007996.1:g.28097G>A", "LRG_750:g.28097G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000763" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000394867.9:n.1131G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824483" }, { "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000687128.1:n.1131G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830922" }, { "coordinates": [ { "allele": "A", "end": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000689792.1:n.632G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832368" }, { "coordinates": [ { "allele": "A", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000262948.10:c.692G>A" ], "proteinEffect": { "hgvs": "ENSP00000262948.4:p.Arg231His", "hgvsWellDefined": "ENSP00000262948.4:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS742424", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262948.10:c.692G>A" }, "RefSeq": { "hgvs": "NM_030662.4:c.692G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262948.4:p.Arg231His" }, "RefSeq": { "hgvs": "NP_109587.1:p.Arg231His" } } } }, { "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "G", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000262948.9:c.692G>A" ], "proteinEffect": { "hgvs": "ENSP00000262948.3:p.Arg231His", "hgvsWellDefined": "ENSP00000262948.3:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS251144" }, { "coordinates": [ { "allele": "A", "end": 695, "referenceAllele": "G", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000394867.8:c.401G>A" ], "proteinEffect": { "hgvs": "ENSP00000378336.1:p.Arg134His", "hgvsWellDefined": "ENSP00000378336.1:p.Arg134His" }, "referenceSequence": "http://reg.genome.network/refseq/RS276391" }, { "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000593364.5:n.639G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS394174" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000597008.5:n.293G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395768" }, { "coordinates": [ { "allele": "A", "end": 156, "referenceAllele": "G", "start": 155 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000597263.5:n.156G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395890" }, { "coordinates": [ { "allele": "A", "end": 16, "referenceAllele": "G", "start": 15 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000599021.1:c.16G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS396658" }, { "coordinates": [ { "allele": "A", "end": 993, "referenceAllele": "G", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000601786.5:n.993G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS397890" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "ENST00000602167.5:n.412G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS398068" }, { "@id": "http://reg.genome.network/allele/PA658815328", "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "G", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "NM_030662.3:c.692G>A", "LRG_750t1:c.692G>A" ], "proteinEffect": { "hgvs": "NP_109587.1:p.Arg231His", "hgvsWellDefined": "NP_109587.1:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS038376" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "XM_006722799.2:c.692G>A" ], "proteinEffect": { "hgvs": "XP_006722862.1:p.Arg231His", "hgvsWellDefined": "XP_006722862.1:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS074725" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "XM_011528133.1:c.122G>A" ], "proteinEffect": { "hgvs": "XP_011526435.1:p.Arg41His", "hgvsWellDefined": "XP_011526435.1:p.Arg41His" }, "referenceSequence": "http://reg.genome.network/refseq/RS095206" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "XM_017026989.1:c.692G>A" ], "proteinEffect": { "hgvs": "XP_016882478.1:p.Arg231His", "hgvsWellDefined": "XP_016882478.1:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS577000" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "XM_017026990.1:c.692G>A" ], "proteinEffect": { "hgvs": "XP_016882479.1:p.Arg231His", "hgvsWellDefined": "XP_016882479.1:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS577001" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "XM_017026991.1:c.692G>A" ], "proteinEffect": { "hgvs": "XP_016882480.1:p.Arg231His", "hgvsWellDefined": "XP_016882480.1:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS577002" }, { "@id": "http://reg.genome.network/allele/PA658815328", "coordinates": [ { "allele": "A", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN006842", "geneNCBI_id": 5605, "geneSymbol": "MAP2K2", "hgvs": [ "NM_030662.4:c.692G>A" ], "proteinEffect": { "hgvs": "NP_109587.1:p.Arg231His", "hgvsWellDefined": "NP_109587.1:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS698868", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262948.10:c.692G>A" }, "RefSeq": { "hgvs": "NM_030662.4:c.692G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262948.4:p.Arg231His" }, "RefSeq": { "hgvs": "NP_109587.1:p.Arg231His" } } } } ], "type": "nucleotide" }