All transcript variants in gene BIRC2

Information The variants shown are described using the NM_001166.4 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-24A>G r.(=) p.(=) g.102220562A>G Copied from the Exome Variant Server BIRC2_000013 1/13004 1/8598 0/4406
?/? c.-1C>T r.(=) p.(=) g.102220585C>T Copied from the Exome Variant Server BIRC2_000015 1/13004 0/8598 1/4406
?/? c.26T>G r.(?) p.(Leu9Arg) g.102220611T>G Copied from the Exome Variant Server BIRC2_000017 2/13004 0/8598 2/4406
?/? c.29T>C r.(?) p.(Phe10Ser) g.102220614T>C Copied from the Exome Variant Server BIRC2_000019 1/13004 1/8598 0/4406
?/? c.35_41del r.(?) p.(Pro13Ilefs*7) g.102220620_102220626del Copied from the Exome Variant Server BIRC2_000023 2/12518 2/8254 0/4264
?/? c.47A>G r.(?) p.(Gln16Arg) g.102220632A>G Copied from the Exome Variant Server BIRC2_000028 1/13004 1/8598 0/4406
?/? c.101G>A r.(?) p.(Ser34Asn) g.102220686G>A Copied from the Exome Variant Server BIRC2_000031 1/13004 1/8598 0/4406
?/? c.104A>G r.(?) p.(Asn35Ser) g.102220689A>G Copied from the Exome Variant Server BIRC2_000035 2/13004 0/8598 2/4406
?/? c.109C>G r.(?) p.(Gln37Glu) g.102220694C>G Copied from the Exome Variant Server BIRC2_000001 1/13004 1/8598 0/4406
?/? c.163A>G r.(?) p.(Thr55Ala) g.102220748A>G Copied from the Exome Variant Server BIRC2_000002 2/13004 0/8598 2/4406
?/? c.229G>T r.(?) p.(Val77Leu) g.102220814G>T Copied from the Exome Variant Server BIRC2_000003 1/13004 1/8598 0/4406
?/? c.245A>G r.(?) p.(Lys82Arg) g.102220830A>G Copied from the Exome Variant Server BIRC2_000004 1/13004 0/8598 1/4406
?/? c.355G>C r.(?) p.(Ala119Pro) g.102220940G>C Copied from the Exome Variant Server BIRC2_000005 1/13004 1/8598 0/4406
?/? c.372C>T r.(=) p.(=) g.102220957C>T Copied from the Exome Variant Server BIRC2_000006 2/13004 0/8598 2/4406
?/? c.400A>G r.(?) p.(Ser134Gly) g.102220985A>G Copied from the Exome Variant Server BIRC2_000007 1/13004 1/8598 0/4406
?/? c.405T>C r.(=) p.(=) g.102220990T>C Copied from the Exome Variant Server BIRC2_000008 2/13004 2/8598 0/4406
?/? c.410A>G r.(?) p.(His137Arg) g.102220995A>G Copied from the Exome Variant Server BIRC2_000009 7/13004 0/8598 7/4406
?/? c.417A>G r.(=) p.(=) g.102221002A>G Copied from the Exome Variant Server BIRC2_000010 3/13004 2/8598 1/4406
?/? c.473C>G r.(?) p.(Pro158Arg) g.102221058C>G Copied from the Exome Variant Server BIRC2_000011 1/13004 1/8598 0/4406
?/? c.486T>G r.(?) p.(Asn162Lys) g.102221071T>G Copied from the Exome Variant Server BIRC2_000085 1/13004 1/8598 0/4406
?/? c.515C>T r.(?) p.(Ser172Leu) g.102221100C>T Copied from the Exome Variant Server BIRC2_000086 2/13004 1/8598 1/4406
?/? c.525C>T r.(=) p.(=) g.102221110C>T Copied from the Exome Variant Server BIRC2_000018 1/13004 1/8598 0/4406
?/? c.556G>A r.(?) p.(Ala186Thr) g.102221141G>A Copied from the Exome Variant Server BIRC2_000021 1/13004 1/8598 0/4406
?/? c.594T>C r.(=) p.(=) g.102221179T>C Copied from the Exome Variant Server BIRC2_000024 1/13004 1/8598 0/4406
?/? c.704A>T r.(?) p.(Asp235Val) g.102221289A>T Copied from the Exome Variant Server BIRC2_000026 2/13004 0/8598 2/4406
?/? c.722G>A r.(?) p.(Arg241Gln) g.102221307G>A Copied from the Exome Variant Server BIRC2_000030 4/13004 1/8598 3/4406
?/? c.813T>G r.(=) p.(=) g.102221398T>G Copied from the Exome Variant Server BIRC2_000034 1/13002 1/8598 0/4404
?/? c.814C>T r.(?) p.(Arg272*) g.102221399C>T Copied from the Exome Variant Server BIRC2_000037 1/13002 1/8598 0/4404
?/? c.858G>A r.(=) p.(=) g.102221443G>A Copied from the Exome Variant Server BIRC2_000038 6/12968 6/8582 0/4386
?/? c.889T>C r.(?) p.(Tyr297His) g.102221474T>C Copied from the Exome Variant Server BIRC2_000041 1/12984 1/8598 0/4386
?/? c.890A>G r.(?) p.(Tyr297Cys) g.102221475A>G Copied from the Exome Variant Server BIRC2_000044 1/12988 0/8598 1/4390
?/? c.895+27A>G r.(=) p.(=) g.102221507A>G Copied from the Exome Variant Server BIRC2_000047 3/13004 2/8598 1/4406
?/? c.895+31T>G r.(=) p.(=) g.102221511T>G Copied from the Exome Variant Server BIRC2_000049 1/13002 0/8596 1/4406
?/? c.896-40A>T r.(=) p.(=) g.102221535A>T Copied from the Exome Variant Server BIRC2_000012 1/13004 1/8598 0/4406
?/? c.896-35C>T r.(=) p.(=) g.102221540C>T Copied from the Exome Variant Server BIRC2_000014 4/13004 0/8598 4/4406
?/? c.896-34G>A r.(=) p.(=) g.102221541G>A Copied from the Exome Variant Server BIRC2_000016 1/13004 1/8598 0/4406
?/? c.896-16_896-15insT r.(=) p.(=) g.102221559_102221560insT Copied from the Exome Variant Server BIRC2_000020 2/12516 0/8252 2/4264
?/? c.954T>C r.(=) p.(=) g.102221633T>C Copied from the Exome Variant Server BIRC2_000022 11/13004 10/8598 1/4406
?/? c.964del r.(?) p.(Pro322Hisfs*3) g.102221643del Copied from the Exome Variant Server BIRC2_000027 1/12516 0/8252 1/4264
?/? c.995+5del r.spl? p.? g.102221679del Copied from the Exome Variant Server BIRC2_000032 1/12516 0/8252 1/4264
?/? c.995+20T>C r.(=) p.(=) g.102221694T>C Copied from the Exome Variant Server BIRC2_000036 7/13004 0/8598 7/4406
?/? c.995+38T>A r.(=) p.(=) g.102221712T>A Copied from the Exome Variant Server BIRC2_000039 1/13004 1/8598 0/4406
?/? c.995+50A>G r.(=) p.(=) g.102221724A>G Copied from the Exome Variant Server BIRC2_000043 1/13004 1/8598 0/4406
?/? c.1021G>A r.(?) p.(Gly341Ser) g.102233652G>A Copied from the Exome Variant Server BIRC2_000046 1/13002 1/8598 0/4404
?/? c.1074+9A>G r.(=) p.(=) g.102233714A>G Copied from the Exome Variant Server BIRC2_000048 1/12996 0/8592 1/4404
?/? c.1074+41T>C r.(=) p.(=) g.102233746T>C Copied from the Exome Variant Server BIRC2_000050 908/12954 449/8558 459/4396
?/? c.1075-29T>C r.(=) p.(=) g.102234370T>C Copied from the Exome Variant Server BIRC2_000052 1/13004 1/8598 0/4406
?/? c.1123+42T>C r.(=) p.(=) g.102234489T>C Copied from the Exome Variant Server BIRC2_000054 1/12998 1/8594 0/4404
?/? c.1124-46G>T r.(=) p.(=) g.102238991G>T Copied from the Exome Variant Server BIRC2_000056 7/12996 6/8594 1/4402
?/? c.1124-23T>A r.(=) p.(=) g.102239014T>A Copied from the Exome Variant Server BIRC2_000058 2/13002 2/8596 0/4406
?/? c.1124-20G>A r.(=) p.(=) g.102239017G>A Copied from the Exome Variant Server BIRC2_000061 20/13002 19/8596 1/4406
?/? c.1124-18A>G r.(=) p.(=) g.102239019A>G Copied from the Exome Variant Server BIRC2_000063 1/13002 1/8596 0/4406
?/? c.1194T>G r.(=) p.(=) g.102239107T>G Copied from the Exome Variant Server BIRC2_000065 1/13004 0/8598 1/4406
?/? c.1307A>G r.(?) p.(Asn436Ser) g.102239220A>G Copied from the Exome Variant Server BIRC2_000067 1/13004 1/8598 0/4406
?/? c.1325G>A r.(?) p.(Arg442Lys) g.102239238G>A Copied from the Exome Variant Server BIRC2_000069 1/13004 0/8598 1/4406
?/? c.1337A>G r.(?) p.(Lys446Arg) g.102239250A>G Copied from the Exome Variant Server BIRC2_000071 1/13004 0/8598 1/4406
?/? c.1357A>G r.(?) p.(Met453Val) g.102239270A>G Copied from the Exome Variant Server BIRC2_000073 1/13004 1/8598 0/4406
?/? c.1359G>A r.(?) p.(Met453Ile) g.102239272G>A Copied from the Exome Variant Server BIRC2_000075 43/13004 0/8598 43/4406
?/? c.1366+13G>T r.(=) p.(=) g.102239292G>T Copied from the Exome Variant Server BIRC2_000025 1/13004 1/8598 0/4406
?/? c.1366+21C>A r.(=) p.(=) g.102239300C>A Copied from the Exome Variant Server BIRC2_000029 2/13004 2/8598 0/4406
?/? c.1367-21C>A r.(=) p.(=) g.102248206C>A Copied from the Exome Variant Server BIRC2_000033 1/12754 1/8508 0/4246
?/? c.1367-15del r.(=) p.(=) g.102248212del Copied from the Exome Variant Server BIRC2_000087 5/12244 4/8158 1/4086
?/? c.1369G>C r.(?) p.(Asp457His) g.102248229G>C Copied from the Exome Variant Server BIRC2_000040 1/12932 1/8572 0/4360
?/? c.1401T>C r.(=) p.(=) g.102248261T>C Copied from the Exome Variant Server BIRC2_000042 5/12986 0/8590 5/4396
?/? c.1413A>G r.(=) p.(=) g.102248273A>G Copied from the Exome Variant Server BIRC2_000045 2/12990 1/8592 1/4398
?/? c.1426C>T r.(?) p.(Leu476Phe) g.102248286C>T Copied from the Exome Variant Server BIRC2_000088 1/12990 1/8590 0/4400
?/? c.1484T>C r.(?) p.(Ile495Thr) g.102248344T>C Copied from the Exome Variant Server BIRC2_000089 1/12998 1/8594 0/4404
?/? c.1517C>T r.(?) p.(Ala506Val) g.102248377C>T Copied from the Exome Variant Server BIRC2_000051 503/13002 448/8596 55/4406
?/? c.1546A>G r.(?) p.(Lys516Glu) g.102248406A>G Copied from the Exome Variant Server BIRC2_000053 15/13000 15/8594 0/4406
?/? c.1553A>G r.(?) p.(Asn518Ser) g.102248413A>G Copied from the Exome Variant Server BIRC2_000055 1/13000 0/8594 1/4406
?/? c.1559C>T r.(?) p.(Ala520Val) g.102248419C>T Copied from the Exome Variant Server BIRC2_000057 1/13000 0/8596 1/4404
?/? c.1584A>G r.(=) p.(=) g.102248444A>G Copied from the Exome Variant Server BIRC2_000059 1/13002 0/8596 1/4406
?/? c.1621+1G>T r.spl? p.? g.102248482G>T Copied from the Exome Variant Server BIRC2_000060 3/12996 2/8592 1/4404
?/? c.1621+10T>C r.(=) p.(=) g.102248491T>C Copied from the Exome Variant Server BIRC2_000062 1/13000 1/8594 0/4406
?/? c.1621+33C>T r.(=) p.(=) g.102248514C>T Copied from the Exome Variant Server BIRC2_000064 1/12994 1/8592 0/4402
?/? c.1622-39A>G r.(=) p.(=) g.102248549A>G Copied from the Exome Variant Server BIRC2_000066 1/12998 1/8594 0/4404
?/? c.1645C>T r.(?) p.(Pro549Ser) g.102248611C>T Copied from the Exome Variant Server BIRC2_000068 7/13004 6/8598 1/4406
?/? c.1654G>T r.(?) p.(Asp552Tyr) g.102248620G>T Copied from the Exome Variant Server BIRC2_000070 1/13004 1/8598 0/4406
?/? c.1663+39del r.(=) p.(=) g.102248668del Copied from the Exome Variant Server BIRC2_000072 43/12516 17/8252 26/4264
?/? c.1664-42T>C r.(=) p.(=) g.102248679T>C Copied from the Exome Variant Server BIRC2_000074 1/13004 1/8598 0/4406
?/? c.1664-39A>C r.(=) p.(=) g.102248682A>C Copied from the Exome Variant Server BIRC2_000076 1/13004 1/8598 0/4406
?/? c.1664-25C>T r.(=) p.(=) g.102248696C>T Copied from the Exome Variant Server BIRC2_000077 2/13004 2/8598 0/4406
?/? c.1664-4T>C r.spl? p.? g.102248717T>C Copied from the Exome Variant Server BIRC2_000078 1/13004 0/8598 1/4406
?/? c.1754C>T r.(?) p.(Pro585Leu) g.102248811C>T Copied from the Exome Variant Server BIRC2_000079 1/13004 1/8598 0/4406
?/? c.1768G>A r.(?) p.(Val590Ile) g.102248825G>A Copied from the Exome Variant Server BIRC2_000080 1/13004 1/8598 0/4406
?/? c.1822A>G r.(?) p.(Ile608Val) g.102248879A>G Copied from the Exome Variant Server BIRC2_000081 1/13002 0/8596 1/4406
?/? c.*11T>G r.(=) p.(=) g.102248925T>G Copied from the Exome Variant Server BIRC2_000082 3/12986 0/8592 3/4394
?/? c.*28A>G r.(=) p.(=) g.102248942A>G Copied from the Exome Variant Server BIRC2_000083 1/12908 0/8556 1/4352
?/? c.*36G>A r.(=) p.(=) g.102248950G>A Copied from the Exome Variant Server BIRC2_000084 121/12872 2/8544 119/4328
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