{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA123397", "communityStandardTitle": [ "NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM451275" }, { "active": false, "id": "COSM451276" }, { "active": false, "id": "COSM6351013" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28763[alleleid]", "alleleId": 28763, "preferredName": "NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13724", "RCV": [ "RCV000014727", "RCV000455533", "RCV001517538", "RCV001824569" ], "variationId": 13724 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-32800412-C-T", "id": "6-32800412-C-T", "variant": "6:32800412 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.32800412C>T?assembly=hg19", "id": "chr6:g.32800412C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.32832635C>T?assembly=hg38", "id": "chr6:g.32832635C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1800454", "rs": 1800454 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-32800412-C-T?dataset=gnomad_r2_1", "id": "6-32800412-C-T", "variant": "6:32800412 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-32832635-C-T?dataset=gnomad_r3", "id": "6-32832635-C-T", "variant": "6:32832635 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-32832635-C-T?dataset=gnomad_r4", "id": "6-32832635-C-T", "variant": "6:32832635 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 32832635, "referenceAllele": "C", "start": 32832634 } ], "hgvs": [ "NC_000006.12:g.32832635C>T", "CM000668.2:g.32832635C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 32800412, "referenceAllele": "C", "start": 32800411 } ], "hgvs": [ "NC_000006.11:g.32800412C>T", "CM000668.1:g.32800412C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 32908390, "referenceAllele": "C", "start": 32908389 } ], "hgvs": [ "NC_000006.10:g.32908390C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 11136, "referenceAllele": "G", "start": 11135 } ], "hgvs": [ "NG_009793.3:g.11136G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001643" }, { "coordinates": [ { "allele": "A", "end": 11136, "referenceAllele": "G", "start": 11135 } ], "hgvs": [ "NG_009793.4:g.11136G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS733324" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3538, "referenceAllele": "G", "start": 3537 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000485701.2:n.3538G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905330" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000698440.1:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000513722.1:p.Val379Ile", "hgvsWellDefined": "ENSP00000513722.1:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS909397" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000698441.1:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000513723.1:p.Val379Ile", "hgvsWellDefined": "ENSP00000513723.1:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS909398" }, { "coordinates": [ { "allele": "A", "end": 1304, "referenceAllele": "G", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000698448.1:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000513733.1:p.Val379Ile", "hgvsWellDefined": "ENSP00000513733.1:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS909405" }, { "coordinates": [ { "allele": "A", "end": 1226, "referenceAllele": "G", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000698449.1:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000513734.1:p.Val379Ile", "hgvsWellDefined": "ENSP00000513734.1:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS909406" }, { "coordinates": [ { "allele": "A", "end": 1226, "referenceAllele": "G", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000705716.1:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000516164.1:p.Val379Ile", "hgvsWellDefined": "ENSP00000516164.1:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS912596" }, { "coordinates": [ { "allele": "A", "end": 1226, "referenceAllele": "G", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000374897.4:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000364032.3:p.Val379Ile", "hgvsWellDefined": "ENSP00000364032.3:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS751523", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374897.4:c.1135G>A" }, "RefSeq": { "hgvs": "NM_001290043.2:c.1135G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364032.3:p.Val379Ile" }, "RefSeq": { "hgvs": "NP_001276972.1:p.Val379Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 1226, "referenceAllele": "G", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000652259.1:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000498827.1:p.Val379Ile", "hgvsWellDefined": "ENSP00000498827.1:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS772106" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000374897.2:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000364032.2:p.Val379Ile", "hgvsWellDefined": "ENSP00000364032.2:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS270473" }, { "coordinates": [ { "allele": "A", "end": 1214, "referenceAllele": "G", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000374899.8:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000364034.4:p.Val379Ile", "hgvsWellDefined": "ENSP00000364034.4:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS270474" }, { "coordinates": [ { "allele": "A", "end": 1309, "referenceAllele": "G", "start": 1308 } ], "hgvs": [ "ENST00000452392.2:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000391806.2:p.Val379Ile", "hgvsWellDefined": "ENSP00000391806.2:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS301602" }, { "coordinates": [ { "allele": "A", "end": 99, "referenceAllele": "G", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000485701.1:n.99G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324668" }, { "coordinates": [ { "allele": "A", "end": 1257, "referenceAllele": "G", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "ENST00000620123.4:c.1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000481712.1:p.Val379Ile", "hgvsWellDefined": "ENSP00000481712.1:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS404684" }, { "@id": "http://reg.genome.network/allele/PA2826774398", "coordinates": [ { "allele": "A", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "NM_001290043.1:c.1135G>A" ], "proteinEffect": { "hgvs": "NP_001276972.1:p.Val379Ile", "hgvsWellDefined": "NP_001276972.1:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS023994" }, { "@id": "http://reg.genome.network/allele/PA123399", "coordinates": [ { "allele": "A", "end": 1257, "referenceAllele": "G", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "NM_018833.2:c.1135G>A" ], "proteinEffect": { "hgvs": "NP_061313.2:p.Val379Ile", "hgvsWellDefined": "NP_061313.2:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS035888" }, { "@id": "http://reg.genome.network/allele/PA2826774398", "coordinates": [ { "allele": "A", "end": 1226, "referenceAllele": "G", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "NM_001290043.2:c.1135G>A" ], "proteinEffect": { "hgvs": "NP_001276972.1:p.Val379Ile", "hgvsWellDefined": "NP_001276972.1:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS682689", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374897.4:c.1135G>A" }, "RefSeq": { "hgvs": "NM_001290043.2:c.1135G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364032.3:p.Val379Ile" }, "RefSeq": { "hgvs": "NP_001276972.1:p.Val379Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA123399", "coordinates": [ { "allele": "A", "end": 1226, "referenceAllele": "G", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN000044", "geneNCBI_id": 6891, "geneSymbol": "TAP2", "hgvs": [ "NM_018833.3:c.1135G>A" ], "proteinEffect": { "hgvs": "NP_061313.2:p.Val379Ile", "hgvsWellDefined": "NP_061313.2:p.Val379Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS728355" } ], "type": "nucleotide" }