All transcript variants in gene STAG2

Information The variants shown are described using the NM_006603.4 transcript reference sequence.

136 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.44+34C>A r.(=) p.(=) g.123156555C>A Copied from the Exome Variant Server STAG2_000001 1/10497 1/6691 0/3806
?/? c.44+52T>C r.(=) p.(=) g.123156573T>C Copied from the Exome Variant Server STAG2_000002 1/5952 1/3564 0/2388
?/? c.45-41A>G r.(=) p.(=) g.123159649A>G Copied from the Exome Variant Server STAG2_000003 1/10490 1/6705 0/3785
?/? c.45-11T>C r.(=) p.(=) g.123159679T>C Copied from the Exome Variant Server STAG2_000004 16/10558 0/6723 16/3835
?/? c.96A>G r.(=) p.(=) g.123159741A>G Copied from the Exome Variant Server STAG2_000005 1/10562 0/6727 1/3835
?/? c.123+4T>C r.spl? p.? g.123159772T>C Copied from the Exome Variant Server STAG2_000006 4/10562 3/6727 1/3835
?/? c.123+27T>G r.(=) p.(=) g.123159795T>G Copied from the Exome Variant Server STAG2_000007 1/10562 1/6727 0/3835
?/? c.123+43_123+46del r.(=) p.(=) g.123159811_123159814del Copied from the Exome Variant Server STAG2_000008 5/10202 0/6481 5/3721
?/? c.123+44A>T r.(=) p.(=) g.123159812A>T Copied from the Exome Variant Server STAG2_000009 1/10561 1/6726 0/3835
?/? c.123+49C>T r.(=) p.(=) g.123159817C>T Copied from the Exome Variant Server STAG2_000010 1/10561 1/6726 0/3835
?/? c.124-40G>T r.(=) p.(=) g.123164771G>T Copied from the Exome Variant Server STAG2_000011 14/10563 0/6728 14/3835
?/? c.288+15G>C r.(=) p.(=) g.123164990G>C Copied from the Exome Variant Server STAG2_000012 1/10563 1/6728 0/3835
?/? c.288+21C>T r.(=) p.(=) g.123164996C>T Copied from the Exome Variant Server STAG2_000013 1/10563 1/6728 0/3835
?/? c.289-24T>A r.(=) p.(=) g.123171353T>A Copied from the Exome Variant Server STAG2_000014 1/10563 1/6728 0/3835
?/? c.335T>C r.(?) p.(Ile112Thr) g.123171423T>C Copied from the Exome Variant Server STAG2_000015 1/10563 1/6728 0/3835
?/? c.385+14A>G r.(=) p.(=) g.123171487A>G Copied from the Exome Variant Server STAG2_000016 1/10563 1/6728 0/3835
?/? c.386-55_386-52del r.(=) p.(=) g.123176364_123176367del Copied from the Exome Variant Server STAG2_000017 17/10185 12/6478 5/3707
?/? c.386-36C>T r.(=) p.(=) g.123176383C>T Copied from the Exome Variant Server STAG2_000018 91/10560 0/6726 91/3834
?/? c.386-8A>T r.(=) p.(=) g.123176411A>T Copied from the Exome Variant Server STAG2_000019 2/10562 2/6727 0/3835
?/? c.397G>A r.(?) p.(Ala133Thr) g.123176430G>A Copied from the Exome Variant Server STAG2_000020 1/10563 0/6728 1/3835
?/? c.408T>C r.(=) p.(=) g.123176441T>C Copied from the Exome Variant Server STAG2_000021 1/10563 0/6728 1/3835
?/? c.463-41T>G r.(=) p.(=) g.123178973T>G Copied from the Exome Variant Server STAG2_000022 26/10562 0/6727 26/3835
?/? c.541G>A r.(?) p.(Val181Met) g.123179092G>A Copied from the Exome Variant Server STAG2_000025 1/10563 1/6728 0/3835
?/? c.667+28A>G r.(=) p.(=) g.123179246A>G Copied from the Exome Variant Server STAG2_000027 10/10560 8/6726 2/3834
?/? c.668-44G>T r.(=) p.(=) g.123181160G>T Copied from the Exome Variant Server STAG2_000029 1/10550 1/6716 0/3834
?/? c.668-35A>T r.(=) p.(=) g.123181169A>T Copied from the Exome Variant Server STAG2_000023 1/10561 0/6726 1/3835
?/? c.668-21A>G r.(=) p.(=) g.123181183A>G Copied from the Exome Variant Server STAG2_000024 7/10563 7/6728 0/3835
?/? c.782A>G r.(?) p.(Asn261Ser) g.123181318A>G Copied from the Exome Variant Server STAG2_000026 1/10563 0/6728 1/3835
?/? c.820-14G>A r.(=) p.(=) g.123182841G>A Copied from the Exome Variant Server STAG2_000028 1/10558 0/6725 1/3833
?/? c.893+10G>C r.(=) p.(=) g.123182938G>C Copied from the Exome Variant Server STAG2_000030 1/10561 1/6726 0/3835
?/? c.894-31_894-29del r.(=) p.(=) g.123184005_123184007del Copied from the Exome Variant Server STAG2_000031 3/10205 3/6484 0/3721
?/? c.894-9C>T r.(=) p.(=) g.123184027C>T Copied from the Exome Variant Server STAG2_000032 788/10563 332/6728 456/3835
?/? c.1017+25T>G r.(=) p.(=) g.123184184T>G Copied from the Exome Variant Server STAG2_000033 1/10563 1/6728 0/3835
?/? c.1017+41C>T r.(=) p.(=) g.123184200C>T Copied from the Exome Variant Server STAG2_000034 2/10563 2/6728 0/3835
?/? c.1017+42G>A r.(=) p.(=) g.123184201G>A Copied from the Exome Variant Server STAG2_000035 2/10563 0/6728 2/3835
?/? c.1018-31T>G r.(=) p.(=) g.123184940T>G Copied from the Exome Variant Server STAG2_000036 2/10167 0/6518 2/3649
?/? c.1116+46A>G r.(=) p.(=) g.123185115A>G Copied from the Exome Variant Server STAG2_000037 31/10525 29/6693 2/3832
?/? c.1116+48_1117-47del r.(=) p.(=) g.123185117_123185118del Copied from the Exome Variant Server STAG2_000038 16/10166 13/6448 3/3718
?/? c.1194A>G r.(=) p.(=) g.123185242A>G Copied from the Exome Variant Server STAG2_000039 1/10550 1/6719 0/3831
?/? c.1196+52_1196+56del r.(=) p.(=) g.123185296_123185300del Copied from the Exome Variant Server STAG2_000040 67/10151 1/6441 66/3710
?/? c.1197-46A>G r.(=) p.(=) g.123189932A>G Copied from the Exome Variant Server STAG2_000041 22/10562 1/6727 21/3835
?/? c.1197-23A>G r.(=) p.(=) g.123189955A>G Copied from the Exome Variant Server STAG2_000042 1/10563 0/6728 1/3835
?/? c.1218T>C r.(=) p.(=) g.123189999T>C Copied from the Exome Variant Server STAG2_000043 1/10563 1/6728 0/3835
?/? c.1248G>C r.(=) p.(=) g.123190029G>C Copied from the Exome Variant Server STAG2_000044 2/10563 0/6728 2/3835
?/? c.1304+11A>G r.(=) p.(=) g.123190096A>G Copied from the Exome Variant Server STAG2_000045 1/10561 0/6728 1/3833
?/? c.1304+16T>C r.(=) p.(=) g.123190101T>C Copied from the Exome Variant Server STAG2_000046 1/10561 1/6728 0/3833
?/? c.1304+17G>C r.(=) p.(=) g.123190102G>C Copied from the Exome Variant Server STAG2_000047 1/10561 0/6728 1/3833
?/? c.1305-51A>G r.(=) p.(=) g.123191665A>G Copied from the Exome Variant Server STAG2_000048 172/10516 1/6703 171/3813
?/? c.1305-44_1305-43insTTG r.(=) p.(=) g.123191672_123191673insTTG Copied from the Exome Variant Server STAG2_000049 8/10184 8/6469 0/3715
?/? c.1342A>G r.(?) p.(Met448Val) g.123191753A>G Copied from the Exome Variant Server STAG2_000050 1/10563 0/6728 1/3835
?/? c.1359A>G r.(=) p.(=) g.123191770A>G Copied from the Exome Variant Server STAG2_000051 1/10563 1/6728 0/3835
?/? c.1416+8G>C r.(=) p.(=) g.123191835G>C Copied from the Exome Variant Server STAG2_000052 2/10563 2/6728 0/3835
?/? c.1416+26C>G r.(=) p.(=) g.123191853C>G Copied from the Exome Variant Server STAG2_000053 1/10563 1/6728 0/3835
?/? c.1417-39A>C r.(=) p.(=) g.123195035A>C Copied from the Exome Variant Server STAG2_000054 2406/10563 1546/6728 860/3835
?/? c.1449C>T r.(=) p.(=) g.123195106C>T Copied from the Exome Variant Server STAG2_000055 1/10563 1/6728 0/3835
?/? c.1534+18T>A r.(=) p.(=) g.123195209T>A Copied from the Exome Variant Server STAG2_000056 1/10563 1/6728 0/3835
?/? c.1535-3_1535-2insA r.spl? p.? g.123195618_123195619insA Copied from the Exome Variant Server STAG2_000057 42/10182 41/6473 1/3709
?/? c.1570A>G r.(?) p.(Ile524Val) g.123195656A>G Copied from the Exome Variant Server STAG2_000058 1/10563 0/6728 1/3835
?/? c.1638+7C>A r.(=) p.(=) g.123195731C>A Copied from the Exome Variant Server STAG2_000059 1/10563 1/6728 0/3835
?/? c.1638+27T>C r.(=) p.(=) g.123195751T>C Copied from the Exome Variant Server STAG2_000060 2/10563 0/6728 2/3835
?/? c.1639-26A>C r.(=) p.(=) g.123196726A>C Copied from the Exome Variant Server STAG2_000061 4/10563 4/6728 0/3835
?/? c.1731+12T>A r.(=) p.(=) g.123196856T>A Copied from the Exome Variant Server STAG2_000062 2/10563 0/6728 2/3835
?/? c.1731+48T>C r.(=) p.(=) g.123196892T>C Copied from the Exome Variant Server STAG2_000063 1/10563 0/6728 1/3835
?/? c.1732-17A>G r.(=) p.(=) g.123196949A>G Copied from the Exome Variant Server STAG2_000064 13/10563 0/6728 13/3835
?/? c.1732-3C>T r.spl? p.? g.123196963C>T Copied from the Exome Variant Server STAG2_000065 2/10562 0/6727 2/3835
?/? c.1734C>G r.(?) p.(Tyr578*) g.123196968C>G Copied from the Exome Variant Server STAG2_000066 1/10562 1/6727 0/3835
?/? c.1821+22A>G r.(=) p.(=) g.123197077A>G Copied from the Exome Variant Server STAG2_000067 2/10550 2/6719 0/3831
?/? c.1821+30T>A r.(=) p.(=) g.123197085T>A Copied from the Exome Variant Server STAG2_000068 1/10534 0/6709 1/3825
?/? c.2000G>A r.(?) p.(Arg667Gln) g.123197876G>A Copied from the Exome Variant Server STAG2_000069 1/10559 1/6726 0/3833
?/? c.2005C>A r.(?) p.(Leu669Ile) g.123197881C>A Copied from the Exome Variant Server STAG2_000070 1/10558 1/6725 0/3833
?/? c.2017C>T r.(=) p.(=) g.123197893C>T Copied from the Exome Variant Server STAG2_000071 2/10546 0/6719 2/3827
?/? c.2026-34T>C r.(=) p.(=) g.123199692T>C Copied from the Exome Variant Server STAG2_000072 135/10559 0/6724 135/3835
?/? c.2043A>G r.(=) p.(=) g.123199743A>G Copied from the Exome Variant Server STAG2_000073 1/10560 0/6725 1/3835
?/? c.2082C>T r.(=) p.(=) g.123199782C>T Copied from the Exome Variant Server STAG2_000074 283/10560 1/6725 282/3835
?/? c.2097-31_2097-30insTT r.(=) p.(=) g.123199994_123199995insTT Copied from the Exome Variant Server STAG2_000075 2542/7360 1934/4840 608/2520
?/? c.2097-31_2097-29del r.(=) p.(=) g.123199994_123199996del Copied from the Exome Variant Server STAG2_000117 569/8329 317/5469 252/2860
?/? c.2097-30_2097-29del r.(=) p.(=) g.123199995_123199996del Copied from the Exome Variant Server STAG2_000101 543/8329 349/5469 194/2860
?/? c.2097-29del r.(=) p.(=) g.123199996del Copied from the Exome Variant Server STAG2_000077 487/8329 305/5469 182/2860
?/? c.2097-29dup r.(=) p.(=) g.123199996dup Copied from the Exome Variant Server STAG2_000076 2329/8329 1787/5469 542/2860
?/? c.2106C>T r.(=) p.(=) g.123200034C>T Copied from the Exome Variant Server STAG2_000078 1/10559 1/6726 0/3833
?/? c.2176C>T r.(?) p.(Pro726Ser) g.123200104C>T Copied from the Exome Variant Server STAG2_000079 1/10557 0/6724 1/3833
?/? c.2184+21_2184+22del r.(=) p.(=) g.123200133_123200134del Copied from the Exome Variant Server STAG2_000080 5/10205 0/6484 5/3721
?/? c.2184+21_2184+22insA r.(=) p.(=) g.123200133_123200134insA Copied from the Exome Variant Server STAG2_000081 2/10205 2/6484 0/3721
?/? c.2185-18C>G r.(=) p.(=) g.123200188C>G Copied from the Exome Variant Server STAG2_000082 17/10562 16/6727 1/3835
?/? c.2185-13A>G r.(=) p.(=) g.123200193A>G Copied from the Exome Variant Server STAG2_000083 1/10562 0/6727 1/3835
?/? c.2265+22del r.(=) p.(=) g.123200308del Copied from the Exome Variant Server STAG2_000084 117/10205 103/6484 14/3721
?/? c.2265+26_2265+27del r.(=) p.(=) g.123200312_123200313del Copied from the Exome Variant Server STAG2_000085 117/10205 103/6484 14/3721
?/? c.2265+28del r.(=) p.(=) g.123200314del Copied from the Exome Variant Server STAG2_000086 120/10205 106/6484 14/3721
?/? c.2358+20G>A r.(=) p.(=) g.123202526G>A Copied from the Exome Variant Server STAG2_000087 3/10537 0/6702 3/3835
?/? c.2359-20del r.(=) p.(=) g.123204979del Copied from the Exome Variant Server STAG2_000089 1982/10200 1366/6479 616/3721
?/? c.2359-20dup r.(=) p.(=) g.123204979dup Copied from the Exome Variant Server STAG2_000088 1088/10200 699/6479 389/3721
?/? c.2381T>C r.(?) p.(Ile794Thr) g.123205021T>C Copied from the Exome Variant Server STAG2_000090 1/10563 0/6728 1/3835
?/? c.2533+40C>T r.(=) p.(=) g.123205213C>T Copied from the Exome Variant Server STAG2_000091 1/10563 0/6728 1/3835
?/? c.2534-50A>G r.(=) p.(=) g.123210132A>G Copied from the Exome Variant Server STAG2_000092 1/10478 0/6693 1/3785
?/? c.2601A>G r.(=) p.(=) g.123210249A>G Copied from the Exome Variant Server STAG2_000093 1/10563 1/6728 0/3835
?/? c.2658C>T r.(=) p.(=) g.123210306C>T Copied from the Exome Variant Server STAG2_000094 1/10563 0/6728 1/3835
?/? c.2673+11A>C r.(=) p.(=) g.123210332A>C Copied from the Exome Variant Server STAG2_000095 3/10563 0/6728 3/3835
?/? c.2673+23A>G r.(=) p.(=) g.123210344A>G Copied from the Exome Variant Server STAG2_000096 30/10563 30/6728 0/3835
?/? c.2673+37A>G r.(=) p.(=) g.123210358A>G Copied from the Exome Variant Server STAG2_000097 2/10562 0/6727 2/3835
?/? c.2775+20A>C r.(=) p.(=) g.123211928A>C Copied from the Exome Variant Server STAG2_000098 2/10561 0/6726 2/3835
Legend   « First ‹ Prev     1 2     Next › Last »