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IKMB: Blood Group DB

JR > ABCG2


Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.2T>C Exon 2 chr4:89061146 chr4:88139994 rs765550029
c.34G>A p.Val12Met Exon 2 chr4:89061114 chr4:88139962 rs2231137
c.187_197delATATTATCGAA p.Ile63Tyrfs* Exon 2 chr4:89060951 chr4:88139799 rs565722112
c.244_245insC p.Thr82Hisfs* Exon 3 chr4:89053746 chr4:88132594
c.263+1G>A Intron 3 chr4:89053727 chr4:88132575 rs767710822
c.289A>T p.Lys97Ter Exon 4 chr4:89053044 chr4:88131892 rs1316542758
c.337C>T p.Arg113Ter Exon 4 chr4:89052996 chr4:88131844 rs201121511
c.376C>T p.Gln126Ter Exon 4 chr4:89052957 chr4:88131805 rs72552713
c.421C>A p.Gln141Lys Exon 5 chr4:89052323 chr4:88131171 rs2231142
c.420_421insA p.Gln141Thrfs*16 Exon 5 chr4:89052323 chr4:88131171
c.439C>T p.Arg147Trp Exon 5 chr4:89052305 chr4:88131153 rs372192400
c.440G>A Exon 5 chr4:89052304 chr4:88131152
c.455T>C Exon 5 chr4:89052289 chr4:88131137
c.458C>T Exon 5 chr4:89052286 chr4:88131134
c.542_543insA p.Phe182Valfs* Exon 6 chr4:89042933 chr4:88121781 rs1445054262
c.565_566delGG p.Gly189fs Exon 6 chr4:89042910 chr4:88121758
c.706C>T p.Arg236Ter Exon 7 chr4:89039396 chr4:88118244 rs140207606
c.730C>T p.Gln244Ter Exon 7 chr4:89039372 chr4:88118220
c.736C>T p.Arg246Ter Exon 7 chr4:89039366 chr4:88118214 rs200190472
c.784G>T p.Gly262Ter Exon 7 chr4:89039318 chr4:88118166 rs200473953
c.791_792delTT p.Leu264Hisfs* Exon 7 chr4:89039310 chr4:88118158 rs387906870
c.875_878dupACTT p.Phe293Leufs* Exon 8 chr4:89036174 chr4:88115022
c.986_987delTA p.Ile329Argfs*19 Exon 9 chr4:89034662 chr4:88113510 rs781465213
c.1017_1019delCTC p.Ser340del Exon 9 chr4:89034630 chr4:88113478
c.1111_1112delAC p.Thr371Leufs* Exon 9 chr4:89034537 chr4:88113385 rs387906869
c.1384G>A Exon 12 chr4:89020584 chr4:88099432
c.1515delC p.Ala506fs Exon 13 chr4:89018737 chr4:88097585 rs868217328
c.1591C>T p.Gln531Ter Exon 13 chr4:89018661 chr4:88097509 rs201584210
c.1714A>C Exon 14 chr4:89016695 chr4:88095543
c.1723C>T p.Arg575Ter Exon 14 chr4:89016686 chr4:88095534 rs548254708
c.1789_1790insT p.Ala597fs Exon 15 chr4:89015759 chr4:88094607
c.1819T>C Exon 16 chr4:89015730 chr4:88094578
c.1820+1G>A Intron 15 chr4:89015728 chr4:88094576
c.1841T>G Exon 16 chr4:89013513 chr4:88092361
c.1858G>A p.Asp620Asn Exon 16 chr4:89013496 chr4:88092344 rs34783571

ATP binding cassette subfamily G member 2
Chromosome:chr4
Strand:-
Genomic ref.:NG_032067.2
Transcript ref.:NM_004827.2
Protein ref.: NP_001244315.1 NP_004818.2 XP_005263412.1 XP_011530722.1
Entrez GeneID:9429
Uniprot ID:Q9UNQ0
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
16 89011415 89080011 89013385 89061147
hg38:
ExonsStartEndCDS StartCDS End
16 88090268 88158639 88092233 88139995
Exon hg19 start hg19 end hg38 start hg38 end
1 89079537 89079791 88158385 88158639
10 89028335 89028418 88107183 88107266
11 89022381 89022471 88101229 88101319
12 89020475 89020600 88099323 88099448
13 89018604 89018759 88097452 88097607
14 89016671 89016761 88095519 88095609
15 89015728 89015811 88094576 88094659
16 89011420 89013533 88090268 88092381
2 89060944 89061166 88139792 88140014
3 89053727 89053787 88132575 88132635
4 89052954 89053069 88131802 88131917
5 89052212 89052365 88131060 88131213
6 89042786 89042944 88121634 88121792
7 89039260 89039412 88118108 88118260
8 89036108 89036210 88114956 88115058
9 89034454 89034705 88113302 88113553