All transcript variants in gene G2E3

Information The variants shown are described using the NM_017769.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.-5+1369C>T r.(=) p.(=) g.31029847C>T - G2E3_000001 rs1300760163 0.003937 2 508 1445 0 1 Admin
./. - c.-5+1434T>G r.(=) p.(=) g.31029912T>G - G2E3_000002 rs79044385 0.058 30 516 3676 - - Admin
./. - c.-5+1513A>G r.(=) p.(=) g.31029991A>G - G2E3_000003 rs60353606 0.005814 3 516 6960 - - Admin
./. - c.-5+1543T>G r.(=) p.(=) g.31030021T>G - G2E3_000004 rs7156057 0.043 22 516 7461 - - Admin
./. - c.-5+1584_-5+1585insT r.(=) p.(=) g.31030062_31030063insT - G2E3_000005 rs764302602 - - - - - - Admin
./. - c.-5+1589T>C r.(=) p.(=) g.31030067T>C - G2E3_000006 rs116870572 0.003876 2 516 6985 - - Admin
./. - c.-4-67A>T r.(=) p.(=) g.31050215A>T - G2E3_000007 rs58049 0.414 213 514 2696 - - Admin
./. - c.38-54del r.(=) p.(=) g.31055870del - G2E3_000008 rs572984978 0.414 213 514 2696 - - Admin
./. - c.135+153T>C r.(=) p.(=) g.31056174T>C - G2E3_000009 rs8005237 0.034 13 384 469 - - Admin
./. - c.237+1060G>A r.(=) p.(=) g.31059750G>A - G2E3_000010 rs229250 0.003906 2 512 2497 - - Admin
./. - c.237+1110A>G r.(=) p.(=) g.31059800A>G - G2E3_000011 rs181395903 0.003876 2 516 5621 - - Admin
./. - c.237+1231G>T r.(=) p.(=) g.31059921G>T - G2E3_000012 rs229251 0.058 30 516 9640 - - Admin
./. - c.237+1279G>A r.(=) p.(=) g.31059969G>A - G2E3_000013 rs7154847 0.341 176 516 10192 - - Admin
./. - c.237+1349A>G r.(=) p.(=) g.31060039A>G - G2E3_000014 rs10148278 0.043 22 516 5543 - - Admin
./. - c.237+1350G>A r.(=) p.(=) g.31060040G>A - G2E3_000015 rs142512495 0.003876 2 516 5507 - - Admin
./. - c.237+1369A>G r.(=) p.(=) g.31060059A>G - G2E3_000016 rs45502891 0.019 10 516 4262 - - Admin
./. - c.237+1374A>G r.(=) p.(=) g.31060064A>G - G2E3_000017 rs72666419 0.001938 1 516 3987 - - Admin
./. - c.238-34A>G r.(=) p.(=) g.31061495A>G - G2E3_000018 rs976294791 0.001946 1 514 1463 1 0 Admin
./. - c.238-25C>A r.(=) p.(=) g.31061504C>A - G2E3_000019 rs140390861 0.003876 2 516 1700 - - Admin
./. - c.238-20A>G r.(=) p.(=) g.31061509A>G - G2E3_000020 rs2273408 0.045 23 514 1830 - - Admin
./. - c.337A>G r.(?) p.(Ile113Val) g.31061628A>G - G2E3_000021 rs145527124 0.001938 1 516 4393 - - Admin
./. - c.362+66A>G r.(=) p.(=) g.31061719A>G - G2E3_000022 rs1366124259 0.001938 1 516 2085 1 0 Admin
./. - c.362+70T>C r.(=) p.(=) g.31061723T>C - G2E3_000023 rs369571930 0.001938 1 516 1968 - - Admin
./. - c.362+82A>G r.(=) p.(=) g.31061735A>G - G2E3_000024 rs544042263 0.007782 4 514 1673 - - Admin
./. - c.362+97A>G r.(=) p.(=) g.31061750A>G - G2E3_000025 rs188844296 0.008032 4 498 1176 - - Admin
./. - c.362+98G>C r.(=) p.(=) g.31061751G>C - G2E3_000026 rs367674874 0.008032 4 498 1173 - - Admin
./. - c.362+125T>C r.(=) p.(=) g.31061778T>C - G2E3_000027 rs117891151 0.004975 2 402 606 - - Admin
./. - c.635+48G>A r.(=) p.(=) g.31066780G>A - G2E3_000028 rs752702556 0.001938 1 516 5742 - - Admin
./. - c.635+116A>G r.(=) p.(=) g.31066848A>G - G2E3_000029 rs114529513 0.007752 4 516 3147 - - Admin
./. - c.635+147C>G r.(=) p.(=) g.31066879C>G - G2E3_000030 rs229259 0.054 28 514 1861 - - Admin
./. - c.636-35A>G r.(=) p.(=) g.31067654A>G - G2E3_000031 rs73264346 0.005814 3 516 3547 - - Admin
./. - c.687C>T r.(=) p.(=) g.31067740C>T - G2E3_000032 rs764182505 0.001938 1 516 8804 - - Admin
./. - c.695G>A r.(?) p.(Arg232His) g.31067748G>A - G2E3_000033 rs17096934 0.017 9 516 9071 - - Admin
./. - c.983C>T r.(?) p.(Pro328Leu) g.31071310C>T - G2E3_000034 rs142475306 0.001938 1 516 3384 - - Admin
./. - c.1010+65C>A r.(=) p.(=) g.31071402C>A - G2E3_000035 rs570859932 0.001961 1 510 1620 - - Admin
./. - c.1011-98del r.(=) p.(=) g.31074613del - G2E3_000036 rs150934449 0.001961 1 510 1620 - - Admin
./. - c.1145G>A r.(?) p.(Arg382Gln) g.31074845G>A - G2E3_000037 rs113560222 0.001946 1 514 4291 - - Admin
./. - c.1318+49A>G r.(=) p.(=) g.31075067A>G - G2E3_000038 rs750217036 0.001938 1 516 2218 - - Admin
./. - c.1500+66G>T r.(=) p.(=) g.31077341G>T - G2E3_000039 rs1417245860 0.001938 1 516 4795 1 0 Admin
./. - c.1500+120A>G r.(=) p.(=) g.31077395A>G - G2E3_000040 rs229230 0.068 35 512 2045 - - Admin
./. - c.1500+120A>T r.(=) p.(=) g.31077395A>T - G2E3_000041 rs229230 0.001953 1 512 2045 - - Admin
./. - c.1673+42G>T r.(=) p.(=) g.31081627G>T - G2E3_000042 rs375415000 0.001938 1 516 3274 - - Admin
./. - c.1673+130T>A r.(=) p.(=) g.31081715T>A - G2E3_000043 rs183139663 0.004525 2 442 693 - - Admin
./. - c.1673+137_1673+141del r.(=) p.(=) g.31081722_31081726del - G2E3_000044 rs147861236 0.004525 2 442 693 - - Admin
./. - c.1865-20T>C r.(=) p.(=) g.31085464T>C - G2E3_000045 rs1273401270 0.001938 1 516 3968 1 0 Admin
./. - c.1906G>A r.(?) p.(Ala636Thr) g.31085525G>A - G2E3_000046 rs45475495 0.001938 1 516 5120 - - Admin
./. - c.*121T>C r.(=) p.(=) g.31085861T>C - G2E3_000047 rs229139 0.003906 2 512 1598 - - Admin
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