Unique variants in gene SLC2A2

Information The variants shown are described using the NM_000340.1 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-48G>A r.(=) p.(=) g.170744507C>T Copied from the Exome Variant Server SLC2A2_000082 2/13006 0/8600 2/4406
1 c.15+84G>A r.(=) p.(=) g.170744361C>T Copied from the Exome Variant Server SLC2A2_000081 170/4566 59/3182 111/1384
1 c.16-34G>T r.(=) p.(=) g.170736446C>A Copied from the Exome Variant Server SLC2A2_000080 2/13006 0/8600 2/4406
1 c.20C>A r.(?) p.(Thr7Asn) g.170736408G>T Copied from the Exome Variant Server SLC2A2_000079 1/13006 0/8600 1/4406
1 c.39T>C r.(=) p.(=) g.170736389A>G Copied from the Exome Variant Server SLC2A2_000078 1/13006 1/8600 0/4406
1 c.40G>C r.(?) p.(Val14Leu) g.170736388C>G Copied from the Exome Variant Server SLC2A2_000077 1/13006 0/8600 1/4406
1 c.66C>A r.(?) p.(Phe22Leu) g.170736362G>T Copied from the Exome Variant Server SLC2A2_000076 1/13006 0/8600 1/4406
1 c.97G>A r.(?) p.(Ala33Thr) g.170736331C>T Copied from the Exome Variant Server SLC2A2_000075 1/13006 0/8600 1/4406
1 c.134T>A r.(?) p.(Val45Asp) g.170732495A>T Copied from the Exome Variant Server SLC2A2_000074 4/13006 2/8600 2/4406
1 c.158G>A r.(?) p.(Arg53Gln) g.170732471C>T Copied from the Exome Variant Server SLC2A2_000073 4/13006 4/8600 0/4406
1 c.203C>T r.(?) p.(Pro68Leu) g.170732426G>A Copied from the Exome Variant Server SLC2A2_000072 46/13006 42/8600 4/4406
1 c.216C>T r.(=) p.(=) g.170732413G>A Copied from the Exome Variant Server SLC2A2_000071 1/13006 1/8600 0/4406
1 c.247G>A r.(?) p.(Glu83Lys) g.170732382C>T Copied from the Exome Variant Server SLC2A2_000070 3/13006 3/8600 0/4406
1 c.277A>G r.(?) p.(Ile93Val) g.170732352T>C Copied from the Exome Variant Server SLC2A2_000069 1/13006 0/8600 1/4406
1 c.301G>A r.(?) p.(Val101Ile) g.170732328C>T Copied from the Exome Variant Server SLC2A2_000068 3/13006 3/8600 0/4406
1 c.329C>T r.(?) p.(Thr110Ile) g.170732300G>A Copied from the Exome Variant Server SLC2A2_000067 3117/13006 1147/8600 1970/4406
1 c.331G>C r.(?) p.(Ala111Pro) g.170732298C>G Copied from the Exome Variant Server SLC2A2_000066 1/13006 1/8600 0/4406
1 c.372-46C>G r.(=) p.(=) g.170727917G>C Copied from the Exome Variant Server SLC2A2_000065 1/12994 1/8594 0/4400
1 c.372-35G>C r.(=) p.(=) g.170727906C>G Copied from the Exome Variant Server SLC2A2_000064 2/13004 2/8598 0/4406
1 c.372-16C>T r.(=) p.(=) g.170727887G>A Copied from the Exome Variant Server SLC2A2_000063 2/13006 2/8600 0/4406
1 c.389T>C r.(?) p.(Val130Ala) g.170727854A>G Copied from the Exome Variant Server SLC2A2_000062 1/13006 1/8600 0/4406
1 c.409G>C r.(?) p.(Val137Leu) g.170727834C>G Copied from the Exome Variant Server SLC2A2_000061 3/13006 3/8600 0/4406
1 c.419del r.(?) p.(Leu140Profs*2) g.170727824del Copied from the Exome Variant Server SLC2A2_000060 1/12520 0/8254 1/4266
1 c.457C>T r.(?) p.(Leu153Phe) g.170727786G>A Copied from the Exome Variant Server SLC2A2_000059 1/13006 1/8600 0/4406
1 c.461T>A r.(?) p.(Ile154Lys) g.170727782A>T Copied from the Exome Variant Server SLC2A2_000058 1/13006 1/8600 0/4406
1 c.496+8A>T r.(=) p.(=) g.170727739T>A Copied from the Exome Variant Server SLC2A2_000056 2693/13000 914/8596 1779/4404
1 c.496+44A>C r.(=) p.(=) g.170727703T>G Copied from the Exome Variant Server SLC2A2_000054 1040/12916 243/8558 797/4358
1 c.497-36G>A r.(=) p.(=) g.170725088C>T Copied from the Exome Variant Server SLC2A2_000052 1/13004 0/8598 1/4406
1 c.497-33G>A r.(=) p.(=) g.170725085C>T Copied from the Exome Variant Server SLC2A2_000050 1/13004 0/8598 1/4406
1 c.529G>A r.(?) p.(Gly177Ser) g.170725020C>T Copied from the Exome Variant Server SLC2A2_000048 1/13004 0/8598 1/4406
1 c.547G>A r.(?) p.(Ala183Thr) g.170725002C>T Copied from the Exome Variant Server SLC2A2_000046 1/13006 1/8600 0/4406
1 c.588C>T r.(=) p.(=) g.170724961G>A Copied from the Exome Variant Server SLC2A2_000044 3/13006 3/8600 0/4406
1 c.589G>A r.(?) p.(Val197Ile) g.170724960C>T Copied from the Exome Variant Server SLC2A2_000057 2/13006 1/8600 1/4406
1 c.593C>T r.(?) p.(Thr198Met) g.170724956G>A Copied from the Exome Variant Server SLC2A2_000055 3/13006 3/8600 0/4406
1 c.594G>A r.(=) p.(=) g.170724955C>T Copied from the Exome Variant Server SLC2A2_000053 2116/13006 874/8600 1242/4406
1 c.612+32A>G r.(=) p.(=) g.170724905T>C Copied from the Exome Variant Server SLC2A2_000051 2/13006 2/8600 0/4406
1 c.613-32G>A r.(=) p.(=) g.170723926C>T Copied from the Exome Variant Server SLC2A2_000049 1/13004 1/8598 0/4406
1 c.613-20C>G r.(=) p.(=) g.170723914G>C Copied from the Exome Variant Server SLC2A2_000047 1/13004 1/8598 0/4406
1 c.613-9C>T r.(=) p.(=) g.170723903G>A Copied from the Exome Variant Server SLC2A2_000045 1/13004 0/8598 1/4406
1 c.661C>T r.(=) p.(=) g.170723846G>A Copied from the Exome Variant Server SLC2A2_000043 64/13004 1/8598 63/4406
1 c.775+19T>C r.(=) p.(=) g.170723713A>G Copied from the Exome Variant Server SLC2A2_000042 6/13004 0/8598 6/4406
1 c.775+41G>T r.(=) p.(=) g.170723691C>A Copied from the Exome Variant Server SLC2A2_000041 1/13004 1/8598 0/4406
1 c.776-15C>T r.(=) p.(=) g.170723276G>A Copied from the Exome Variant Server SLC2A2_000040 2887/13006 1145/8600 1742/4406
1 c.803_805del r.(?) p.(Asp268del) g.170723232_170723234del Copied from the Exome Variant Server SLC2A2_000039 1/12520 1/8254 0/4266
1 c.814G>T r.(?) p.(Asp272Tyr) g.170723223C>A Copied from the Exome Variant Server SLC2A2_000038 1/13006 1/8600 0/4406
1 c.822T>C r.(=) p.(=) g.170723215A>G Copied from the Exome Variant Server SLC2A2_000037 1/13006 1/8600 0/4406
1 c.838_839insA r.(?) p.(Arg280Lysfs*7) g.170723198_170723199insT Copied from the Exome Variant Server SLC2A2_000036 1/12520 0/8254 1/4266
1 c.852G>A r.(=) p.(=) g.170723185C>T Copied from the Exome Variant Server SLC2A2_000035 1/13006 1/8600 0/4406
1 c.858G>A r.(=) p.(=) g.170723179C>T Copied from the Exome Variant Server SLC2A2_000034 1/13006 1/8600 0/4406
1 c.890A>G r.(?) p.(Asn297Ser) g.170723147T>C Copied from the Exome Variant Server SLC2A2_000033 1/13006 0/8600 1/4406
1 c.902G>A r.(?) p.(Arg301Gln) g.170723135C>T Copied from the Exome Variant Server SLC2A2_000032 1/13006 1/8600 0/4406
1 c.903A>G r.(=) p.(=) g.170723134T>C Copied from the Exome Variant Server SLC2A2_000031 1/13006 0/8600 1/4406
1 c.959A>G r.(?) p.(Asn320Ser) g.170723078T>C Copied from the Exome Variant Server SLC2A2_000030 1/13006 1/8600 0/4406
1 c.963C>A r.(=) p.(=) g.170723074G>T Copied from the Exome Variant Server SLC2A2_000029 1/13006 1/8600 0/4406
1 c.963+1G>A r.spl? p.? g.170723073C>T Copied from the Exome Variant Server SLC2A2_000028 1/13006 0/8600 1/4406
1 c.963+14C>T r.(=) p.(=) g.170723060G>A Copied from the Exome Variant Server SLC2A2_000027 5/13006 0/8600 5/4406
1 c.996G>A r.(=) p.(=) g.170720437C>T Copied from the Exome Variant Server SLC2A2_000026 1/13004 1/8600 0/4404
1 c.1063G>A r.(?) p.(Val355Ile) g.170720370C>T Copied from the Exome Variant Server SLC2A2_000025 1/13006 0/8600 1/4406
1 c.1069-9T>C r.(=) p.(=) g.170716964A>G Copied from the Exome Variant Server SLC2A2_000024 191/13006 4/8600 187/4406
1 c.1075C>A r.(?) p.(Leu359Ile) g.170716949G>T Copied from the Exome Variant Server SLC2A2_000023 1/13006 0/8600 1/4406
1 c.1077T>C r.(=) p.(=) g.170716947A>G Copied from the Exome Variant Server SLC2A2_000022 4/13006 0/8600 4/4406
1 c.1087G>T r.(?) p.(Ala363Ser) g.170716937C>A Copied from the Exome Variant Server SLC2A2_000021 12/13006 10/8600 2/4406
1 c.1115del r.(?) p.(Gly372Glufs*2) g.170716909del Copied from the Exome Variant Server SLC2A2_000020 1/12520 1/8254 0/4266
1 c.1164G>A r.(=) p.(=) g.170716860C>T Copied from the Exome Variant Server SLC2A2_000019 5/13006 0/8600 5/4406
1 c.1170+39A>G r.(=) p.(=) g.170716815T>C Copied from the Exome Variant Server SLC2A2_000018 3/13006 0/8600 3/4406
1 c.1205T>C r.(?) p.(Ile402Thr) g.170716151A>G Copied from the Exome Variant Server SLC2A2_000017 1/13006 1/8600 0/4406
1 c.1225A>T r.(?) p.(Ser409Cys) g.170716131T>A Copied from the Exome Variant Server SLC2A2_000016 1/13006 0/8600 1/4406
1 c.1251G>A r.(=) p.(=) g.170716105C>T Copied from the Exome Variant Server SLC2A2_000015 1/13006 1/8600 0/4406
1 c.1294C>T r.(?) p.(Arg432Cys) g.170716062G>A Copied from the Exome Variant Server SLC2A2_000014 1/13006 0/8600 1/4406
1 c.1295G>A r.(?) p.(Arg432His) g.170716061C>T Copied from the Exome Variant Server SLC2A2_000013 1/13006 1/8600 0/4406
1 c.1374+14T>A r.(=) p.(=) g.170715968A>T Copied from the Exome Variant Server SLC2A2_000012 1/13006 1/8600 0/4406
1 c.1374+22del r.(=) p.(=) g.170715960del Copied from the Exome Variant Server SLC2A2_000011 2/12516 2/8252 0/4264
1 c.1375-10T>C r.(=) p.(=) g.170715902A>G Copied from the Exome Variant Server SLC2A2_000010 1/13006 0/8600 1/4406
1 c.1412G>C r.(?) p.(Gly471Ala) g.170715855C>G Copied from the Exome Variant Server SLC2A2_000009 1/13006 1/8600 0/4406
1 c.1432C>G r.(?) p.(Leu478Val) g.170715835G>C Copied from the Exome Variant Server SLC2A2_000008 14/13006 14/8600 0/4406
1 c.1437C>T r.(=) p.(=) g.170715830G>A Copied from the Exome Variant Server SLC2A2_000007 5156/13006 2567/8600 2589/4406
1 c.1506G>A r.(=) p.(=) g.170715761C>T Copied from the Exome Variant Server SLC2A2_000006 2/12998 0/8594 2/4404
1 c.1524G>C r.(?) p.(Arg508Ser) g.170715743C>G Copied from the Exome Variant Server SLC2A2_000005 1/12990 1/8590 0/4400
1 c.1550T>A r.(?) p.(Phe517Tyr) g.170715717A>T Copied from the Exome Variant Server SLC2A2_000004 1/12966 1/8564 0/4402
1 c.*7_*8insAA r.(=) p.(=) g.170715684_170715685insTT Copied from the Exome Variant Server SLC2A2_000003 13/12004 8/7866 5/4138
1 c.*8del r.(=) p.(=) g.170715684del Copied from the Exome Variant Server SLC2A2_000002 417/12004 264/7866 153/4138
1 c.*8dup r.(=) p.(=) g.170715684dup Copied from the Exome Variant Server SLC2A2_000001 235/12004 154/7866 81/4138
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