Transcript #00004610

Transcript name ATP-binding cassette, sub-family G (WHITE), member 2, transcript variant 1
Gene name ABCG2 (ATP binding cassette subfamily G member 2 (Junior blood group))
Chromosome 4
Transcript - NCBI ID NM_004827.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004818.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

65 entries on 1 page. Showing entries 1 - 65.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-977T>A r.(=) p.(=)
./. - c.-928G>C r.(=) p.(=)
./. - c.-917G>A r.(=) p.(=)
./. - c.-883C>A r.(=) p.(=)
./. - c.-833G>C r.(=) p.(=)
./. - c.-800_-797del r.(=) p.(=)
./. - c.-759_-753del r.(=) p.(=)
./. - c.-704G>T r.(=) p.(=)
./. - c.-698G>T r.(=) p.(=)
./. - c.-341_-340insATGCTCAGCAGTCTGGCCATGAGCCTCTTC r.(=) p.(=)
./. - c.-340_-339insGATGCTCAGCAGTCTGGCCATGAGCCTCTTCTTCATCACCGGCTGGATGCTGTACC r.(=) p.(=)
./. - c.-339_-338insCATCACCGGCTGGATGCTGTACCTGGACCGCCGCCGCAGCCAGC r.(=) p.(=)
./. - c.-338_-337insGACCGCCGCCGCAGCCAGCG r.(=) p.(=)
./. - c.-114C>T r.(=) p.(=)
./. - c.-65C>G r.(=) p.(=)
./. - c.34G>A r.(?) p.(Val12Met)
./. - c.203+36A>G r.(=) p.(=)
./. - c.211A>G r.(?) p.(Met71Val)
./. - c.221G>A r.(?) p.(Gly74Asp)
./. - c.263+10A>G r.(=) p.(=)
./. - c.263+71_263+72insT r.(=) p.(=)
./. - c.264-72G>A r.(=) p.(=)
./. - c.369C>T r.(=) p.(=)
./. - c.421C>A r.(?) p.(Gln141Lys)
./. - c.458C>T r.(?) p.(Thr153Met)
./. - c.532-16A>G r.(=) p.(=)
./. - c.689+13G>A r.(=) p.(=)
./. - c.690-88A>G r.(=) p.(=)
./. - c.802G>A r.(?) p.(Gly268Arg)
./. - c.841+18A>G r.(=) p.(=)
./. - c.842-177_842-176insCAGAGAGAGAGAGA r.(=) p.(=)
./. - c.842-175_842-174insGACAGAGAGAGAGAGAGA r.(=) p.(=)
./. - c.842-174_842-173insAGAGAGAGAGAGAGAC r.(=) p.(=)
./. - c.842-143G>A r.(=) p.(=)
./. - c.842-84T>G r.(=) p.(=)
./. - c.886G>C r.(?) p.(Asp296His)
./. - c.944-14C>T r.(=) p.(=)
./. - c.1060G>A r.(?) p.(Gly354Arg)
./. - c.1098G>A r.(=) p.(=)
./. - c.1194+45G>T r.(=) p.(=)
./. - c.1194+130A>C r.(=) p.(=)
./. - c.1195-126T>G r.(=) p.(=)
./. - c.1195-60A>T r.(=) p.(=)
./. - c.1277+100A>C r.(=) p.(=)
./. - c.1277+100A>T r.(=) p.(=)
./. - c.1277+112T>C r.(=) p.(=)
./. - c.1278-29C>T r.(=) p.(=)
./. - c.1346T>C r.(?) p.(Val449Ala)
./. - c.1367+15G>T r.(=) p.(=)
./. - c.1367+20G>A r.(=) p.(=)
./. - c.1367+42A>C r.(=) p.(=)
./. - c.1368-107C>T r.(=) p.(=)
./. - c.1492+38G>A r.(=) p.(=)
./. - c.1492+49G>T r.(=) p.(=)
./. - c.1492+137G>T r.(=) p.(=)
./. - c.1519T>G r.(?) p.(Phe507Val)
./. - c.1582G>A r.(?) p.(Ala528Thr)
./. - c.1624A>G r.(?) p.(Thr542Ala)
./. - c.1647+40T>C r.(=) p.(=)
./. - c.1648-21T>C r.(=) p.(=)
./. - c.1737+49A>G r.(=) p.(=)
./. - c.1738-46G>A r.(=) p.(=)
./. - c.1820+110C>T r.(=) p.(=)
./. - c.1820+180A>G r.(=) p.(=)
./. - c.1858G>A r.(?) p.(Asp620Asn)
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