032 JR Blood Group
The JR blood group system consists of one antigen carried on a multipass membrane glycoprotein (a.k.a. ATPbinding cassette, sub-family G, member 2 [ABCG2]; breast cancer resistance protein [BCRP], CD338) of 655
Reference Info
Gene: ABCG2
Allele: ABCG2. Acceptable: Jra if inferred by haemagglutination
Seq: NG_032067.2
(genomic), NM_004827.2 (transcript)
Entrez GeneID: 9429
Number of exons: 16
Allele: ABCG2. Acceptable: Jra if inferred by haemagglutination
Seq: NG_032067.2
(genomic), NM_004827.2 (transcript)
Entrez GeneID: 9429
Number of exons: 16
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 5:Unclear Alleles | Unclear | c.1714A>C |
Exon 5
Exon 14 Intron 1 |
p.Ser572Arg |
chr4:88131171 chr4:88131152 chr4:88131137 chr4:88131134 chr4:88099432 chr4:88095543 |
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| 0:Antigen Alleles | Jr(a+) | ABCG2*01 | ||||||||
| 4:Null Alleles | Jr(a-) | ABCG2*01N.01 | c.376C>T | Exon 4 | p.Gln126* | chr4:88131805 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.02.01 | c.706C>T | Exon 7 | p.Arg236* | chr4:88118244 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.02.02 |
c.34G>A c.706C>T |
Exon 2
Exon 7 |
p.Val12Met p.Arg236* |
chr4:88139962 chr4:88118244 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.03 | c.736C>T | Exon 7 | p.Arg246* | chr4:88118214 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.04 | c.337C>T | Exon 4 | p.Arg113* | chr4:88131844 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.05 | c.784G>T | Exon 7 | p.Gly262* | chr4:88118166 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.06 |
c.34G>A c.1591C>T |
Exon 2
Exon 13 |
p.Val12Met p.Gln531* |
chr4:88139962 chr4:88097509 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.07 | c.187_197delATATTATCGAA | Exon 2 | p.Ile63Tyrfs* | chr4:88139809 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.08 | c.542_543insA | Exon 6 | p.Phe182Valfs* | chr4:88121782 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.09 | c.730C>T | Exon 7 | p.Gln244* | chr4:88118220 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.10 | c.791_792delTT | Exon 7 | p.Leu264HisfsX | chr4:88118159 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.11 | c.875_878dupACTT | Exon 8 | p.Phe293Leufs*8 | chr4:88115025 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.12 | c.1111_1112delAC | Exon 9 | p.Thr371Leufs*20 | chr4:88113386 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.13 |
c.34G>A c.244_245insC |
Exon 2
Exon 3 |
p.Val12Met p.Thr82Hisfs* |
chr4:88139962 chr4:88132595 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.14 | c.1017_1019delCTC | Exon 9 | p.Ser340del | chr4:88113480 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.15 | c.420_421insA | Exon 5 | p.Gln141Thrfs*16 | chr4:88131172 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.16 | c.986_987delTA | Exon 9 | p.Ile329Argfs*19 | chr4:88113511 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.17 | c.263+1G>A | Intron 3 | r.spl? | chr4:88132575 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.18 | c.289A>T | Exon 4 | p.Lys97* | chr4:88131892 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.19 | c.565_566del | Exon 6 | p.Gly189Argfs*6 | chr4:88121759 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.20 | c.1515del | Exon 13 | p.Ala506fs | chr4:88097585 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.21 | c.1723C>T | Exon 14 | p.Arg575* | chr4:88095534 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.22 | c.1789_1790insT | Exon 15 | p.Ala597Valfs*8 | chr4:88094608 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.23 | 27-kb deletion including noncoding Exon 1 and the promoter region of ABCG2 | |||||||
| 4:Null Alleles | Jr(a-) | ABCG2*01N.24 | c.2T>C | Exon 2 | p.0 | chr4:88139994 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.25 |
c.421C>A c.1515del |
Exon 5
Exon 13 |
p.Gln141Lys pAla506fs |
chr4:88131171 chr4:88097585 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.26 | c.439C>T | Exon 5 | p.Arg147Trp | chr4:88131153 |
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| 4:Null Alleles | Jr(a-) | ABCG2*01N.27 | Deletion of exons 3 to 5 | |||||||
| 1:Weak Alleles | Jr(a+w) | ABCG2*01W.01 | c.421C>A | Exon 5 | p.Gln141Lys | chr4:88131171 |
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| 1:Weak Alleles | Jr(a+w) | ABCG2*01W.02 | c.1858G>A | Exon 16 | p.Asp620Asn | chr4:88092344 |
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