All transcript variants in gene ABI2

Information The variants shown are described using the NM_005759.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.117+34_117+35insC r.(=) p.(=) g.204193388_204193389insC - ABI2_000006 rs529794533 - - - - - - Admin
./. - c.117+13438_117+13439insT r.(=) p.(=) g.204206792_204206793insT - ABI2_000008 rs373741015 - - - - - - Admin
./. - c.117+13531A>G r.(=) p.(=) g.204206885A>G - ABI2_000010 rs926541951 0.001938 1 516 3831 1 0 Admin
./. - c.117+13623C>T r.(=) p.(=) g.204206977C>T - ABI2_000012 rs4675333 1 516 516 5294 - - Admin
./. - c.118-15345_118-15344insT r.(=) p.(=) g.204216255_204216256insT - ABI2_000014 rs35382487 - - - - - - Admin
./. - c.118-11696C>T r.(=) p.(=) g.204219904C>T - ABI2_000001 rs574939816 0.001938 1 516 6547 - - Admin
./. - c.285+44A>G r.(=) p.(=) g.204231811A>G - ABI2_000002 rs201137565 0.001938 1 516 3912 - - Admin
./. - c.285+63T>G r.(=) p.(=) g.204231830T>G - ABI2_000003 rs566241233 0.001938 1 516 3144 - - Admin
./. - c.286-5459del r.(=) p.(=) g.204239472del - ABI2_000004 rs549399528 0.003876 2 516 2778 - - Admin
./. - c.286-5208G>C r.(=) p.(=) g.204239723G>C - ABI2_000005 rs78353544 0.00969 5 516 5029 - - Admin
./. - c.286-4228A>G r.(=) p.(=) g.204240703A>G - ABI2_000007 rs61659268 0.004032 2 496 935 - - Admin
./. - c.286-4039del r.(=) p.(=) g.204240892del - ABI2_000009 rs141056236 0.048 25 516 3694 - - Admin
./. - c.286-3939T>C r.(=) p.(=) g.204240992T>C - ABI2_000011 - 0.001938 1 516 1890 1 0 Admin
./. - c.421A>G r.(?) p.(Ile141Val) g.204245066A>G - ABI2_000013 rs141392713 0.001938 1 516 5234 - - Admin
./. - c.462+1712_462+1718del r.(=) p.(=) g.204246819_204246825del - ABI2_000015 rs543676293 0.003876 2 516 2145 - - Admin
./. - c.462+1741del r.(=) p.(=) g.204246848del - ABI2_000016 rs1340616763 0.001938 1 516 1890 1 0 Admin
./. - c.462+1805T>C r.(=) p.(=) g.204246912T>C - ABI2_000017 rs144317327 0.001938 1 516 5220 - - Admin
./. - c.462+1896T>A r.(=) p.(=) g.204247003T>A - ABI2_000019 rs148326389 0.007752 4 516 3497 - - Admin
./. - c.462+2718T>A r.(=) p.(=) g.204247825T>A - ABI2_000021 - 0.001946 1 514 1827 1 0 Admin
./. - c.462+2719A>T r.(=) p.(=) g.204247826A>T - ABI2_000023 - 0.001946 1 514 1880 1 0 Admin
./. - c.462+2794G>A r.(=) p.(=) g.204247901G>A - ABI2_000025 rs539710755 0.001938 1 516 6622 - - Admin
./. - c.462+2818G>A r.(=) p.(=) g.204247925G>A - ABI2_000027 rs1047973676 0.001938 1 516 7411 1 0 Admin
./. - c.462+2872G>A r.(=) p.(=) g.204247979G>A - ABI2_000029 rs551284220 0.001938 1 516 7354 - - Admin
./. - c.707+109_707+110insT r.(=) p.(=) g.204259678_204259679insT - ABI2_000031 rs569634751 - - - - - - Admin
./. - c.707+265A>T r.(=) p.(=) g.204259834A>T - ABI2_000033 rs1296286500 0.001938 1 516 4990 1 0 Admin
./. - c.707+285T>G r.(=) p.(=) g.204259854T>G - ABI2_000035 rs1324090399 0.001938 1 516 4101 1 0 Admin
./. - c.708-45T>C r.(=) p.(=) g.204260334T>C - ABI2_000037 rs529304093 0.001938 1 516 6597 - - Admin
./. - c.708-3T>C r.spl? p.? g.204260376T>C - ABI2_000038 rs1165134578 0.001938 1 516 8042 1 0 Admin
./. - c.832+21C>T r.(=) p.(=) g.204260524C>T - ABI2_000039 rs199624030 0.001938 1 516 8919 - - Admin
./. - c.832+30T>C r.(=) p.(=) g.204260533T>C - ABI2_000040 - 0.001938 1 516 8668 1 0 Admin
./. - c.832+1220G>C r.(=) p.(=) g.204261723G>C - ABI2_000018 rs3731652 0.798 412 516 8773 - - Admin
./. - c.939A>G r.(=) p.(=) g.204267405A>G - ABI2_000020 rs142493474 0.003876 2 516 7554 - - Admin
./. - c.947T>A r.(?) p.(Leu316His) g.204267413T>A - ABI2_000022 rs140793695 0.001938 1 516 7495 - - Admin
./. - c.991+97G>T r.(=) p.(=) g.204267554G>T - ABI2_000024 rs2248848 0.024 12 506 1279 - - Admin
./. - c.991+741T>C r.(=) p.(=) g.204268198T>C - ABI2_000026 rs78871923 0.007752 4 516 4420 - - Admin
./. - c.991+1368T>G r.(=) p.(=) g.204268825T>G - ABI2_000028 rs116388309 0.00969 5 516 4267 - - Admin
./. - c.991+1409C>T r.(=) p.(=) g.204268866C>T - ABI2_000030 rs182834222 0.003876 2 516 4285 - - Admin
./. - c.992-69G>C r.(=) p.(=) g.204275939G>C - ABI2_000032 rs540070326 0.005814 3 516 4158 - - Admin
./. - c.1079-93C>G r.(=) p.(=) g.204281538C>G - ABI2_000034 rs1209921559 0.001938 1 516 2454 1 0 Admin
./. - c.*103A>G r.(=) p.(=) g.204292178A>G - ABI2_000036 rs1485810695 0.003937 2 508 1528 2 0 Admin
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