All transcript variants in gene DGAT2

Information The variants shown are described using the NM_032564.4 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-30C>T r.(=) p.(=) g.75480007C>T Copied from the Exome Variant Server DGAT2_000001 6/11294 5/7544 1/3750
?/? c.12C>G r.(=) p.(=) g.75480048C>G Copied from the Exome Variant Server DGAT2_000002 1/12760 1/8466 0/4294
?/? c.44A>T r.(?) p.(Glu15Val) g.75480080A>T Copied from the Exome Variant Server DGAT2_000003 1/12800 1/8488 0/4312
?/? c.61G>A r.(?) p.(Asp21Asn) g.75480097G>A Copied from the Exome Variant Server DGAT2_000004 4/12886 4/8530 0/4356
?/? c.72G>A r.(=) p.(=) g.75480108G>A Copied from the Exome Variant Server DGAT2_000005 157/12910 0/8538 157/4372
?/? c.77C>T r.(?) p.(Ser26Phe) g.75480113C>T Copied from the Exome Variant Server DGAT2_000006 1/12908 1/8536 0/4372
?/? c.92C>T r.(?) p.(Ala31Val) g.75480128C>T Copied from the Exome Variant Server DGAT2_000007 1/12896 1/8528 0/4368
?/? c.121+9C>T r.(=) p.(=) g.75480166C>T Copied from the Exome Variant Server DGAT2_000008 1/12894 1/8528 0/4366
?/? c.179A>G r.(?) p.(Asn60Ser) g.75495720A>G Copied from the Exome Variant Server DGAT2_000009 1/12986 0/8586 1/4400
?/? c.245T>C r.(?) p.(Val82Ala) g.75495786T>C Copied from the Exome Variant Server DGAT2_000010 2/12986 2/8586 0/4400
?/? c.251-38G>A r.(=) p.(=) g.75501195G>A Copied from the Exome Variant Server DGAT2_000011 6/12986 6/8586 0/4400
?/? c.251-32T>C r.(=) p.(=) g.75501201T>C Copied from the Exome Variant Server DGAT2_000012 1/12986 0/8586 1/4400
?/? c.251-27C>T r.(=) p.(=) g.75501206C>T Copied from the Exome Variant Server DGAT2_000013 11/12986 10/8586 1/4400
?/? c.251-26C>G r.(=) p.(=) g.75501207C>G Copied from the Exome Variant Server DGAT2_000014 2630/12986 783/8586 1847/4400
?/? c.273C>T r.(=) p.(=) g.75501255C>T Copied from the Exome Variant Server DGAT2_000015 5/12986 0/8586 5/4400
?/? c.295T>C r.(?) p.(Cys99Arg) g.75501277T>C Copied from the Exome Variant Server DGAT2_000016 1/12986 1/8586 0/4400
?/? c.306C>T r.(=) p.(=) g.75501288C>T Copied from the Exome Variant Server DGAT2_000017 1/12986 1/8586 0/4400
?/? c.333G>A r.(=) p.(=) g.75501315G>A Copied from the Exome Variant Server DGAT2_000018 2/12986 1/8586 1/4400
?/? c.359-29C>T r.(=) p.(=) g.75501677C>T Copied from the Exome Variant Server DGAT2_000019 1/12986 0/8586 1/4400
?/? c.400C>T r.(?) p.(Arg134Cys) g.75501747C>T Copied from the Exome Variant Server DGAT2_000020 1/12986 0/8586 1/4400
?/? c.429+23T>C r.(=) p.(=) g.75501799T>C Copied from the Exome Variant Server DGAT2_000021 1/12986 1/8586 0/4400
?/? c.430-52C>G r.(=) p.(=) g.75507321C>G Copied from the Exome Variant Server DGAT2_000022 1/5714 1/3968 0/1746
?/? c.430-46A>G r.(=) p.(=) g.75507327A>G Copied from the Exome Variant Server DGAT2_000023 1/12986 1/8586 0/4400
?/? c.430-15A>G r.(=) p.(=) g.75507358A>G Copied from the Exome Variant Server DGAT2_000024 1/12986 0/8586 1/4400
?/? c.565C>T r.(?) p.(Arg189Trp) g.75507508C>T Copied from the Exome Variant Server DGAT2_000025 2/12986 1/8586 1/4400
?/? c.590G>A r.(?) p.(Gly197Asp) g.75507533G>A Copied from the Exome Variant Server DGAT2_000026 1/12986 1/8586 0/4400
?/? c.603G>T r.(?) p.(Met201Ile) g.75507546G>T Copied from the Exome Variant Server DGAT2_000027 1/12986 0/8586 1/4400
?/? c.634+15C>T r.(=) p.(=) g.75507592C>T Copied from the Exome Variant Server DGAT2_000028 1/12986 0/8586 1/4400
?/? c.635-46T>C r.(=) p.(=) g.75508157T>C Copied from the Exome Variant Server DGAT2_000029 25/12986 24/8586 1/4400
?/? c.635-34C>G r.(=) p.(=) g.75508169C>G Copied from the Exome Variant Server DGAT2_000030 4/12986 4/8586 0/4400
?/? c.635-23G>A r.(=) p.(=) g.75508180G>A Copied from the Exome Variant Server DGAT2_000031 1/12986 1/8586 0/4400
?/? c.635-21_635-20insG r.(=) p.(=) g.75508182_75508183insG Copied from the Exome Variant Server DGAT2_000032 1/12518 1/8254 0/4264
?/? c.650G>A r.(?) p.(Ser217Asn) g.75508218G>A Copied from the Exome Variant Server DGAT2_000033 1/12986 1/8586 0/4400
?/? c.665A>C r.(?) p.(Asp222Ala) g.75508233A>C Copied from the Exome Variant Server DGAT2_000035 1/12986 1/8586 0/4400
?/? c.690T>C r.(=) p.(=) g.75508258T>C Copied from the Exome Variant Server DGAT2_000037 73/12986 65/8586 8/4400
?/? c.719G>A r.(?) p.(Gly240Asp) g.75508287G>A Copied from the Exome Variant Server DGAT2_000039 1/12986 1/8586 0/4400
?/? c.749G>A r.(?) p.(Gly250Asp) g.75508317G>A Copied from the Exome Variant Server DGAT2_000041 16/12986 16/8586 0/4400
?/? c.765C>A r.(=) p.(=) g.75508333C>A Copied from the Exome Variant Server DGAT2_000043 1/12986 1/8586 0/4400
?/? c.767T>C r.(?) p.(Leu256Pro) g.75508335T>C Copied from the Exome Variant Server DGAT2_000034 1/12986 1/8586 0/4400
?/? c.802C>T r.(?) p.(Arg268Cys) g.75508370C>T Copied from the Exome Variant Server DGAT2_000036 2/12986 2/8586 0/4400
?/? c.809+20del r.(=) p.(=) g.75508397del Copied from the Exome Variant Server DGAT2_000038 15/12518 15/8254 0/4264
?/? c.809+23A>G r.(=) p.(=) g.75508400A>G Copied from the Exome Variant Server DGAT2_000040 1/12986 1/8586 0/4400
?/? c.810-44A>C r.(=) p.(=) g.75509228A>C Copied from the Exome Variant Server DGAT2_000042 8/12986 6/8586 2/4400
?/? c.810-22G>A r.(=) p.(=) g.75509250G>A Copied from the Exome Variant Server DGAT2_000044 2/12986 0/8586 2/4400
?/? c.855C>A r.(?) p.(Tyr285*) g.75509317C>A Copied from the Exome Variant Server DGAT2_000045 5/12986 5/8586 0/4400
?/? c.871G>A r.(?) p.(Glu291Lys) g.75509333G>A Copied from the Exome Variant Server DGAT2_000046 1/12986 1/8586 0/4400
?/? c.890G>A r.(?) p.(Arg297Gln) g.75509352G>A Copied from the Exome Variant Server DGAT2_000047 39/12986 27/8586 12/4400
?/? c.901A>G r.(?) p.(Lys301Glu) g.75509363A>G Copied from the Exome Variant Server DGAT2_000048 1/12986 1/8586 0/4400
?/? c.952G>A r.(?) p.(Gly318Ser) g.75509414G>A Copied from the Exome Variant Server DGAT2_000049 20/12986 17/8586 3/4400
?/? c.966C>T r.(=) p.(=) g.75509428C>T Copied from the Exome Variant Server DGAT2_000050 1/12986 0/8586 1/4400
?/? c.1012+22C>T r.(=) p.(=) g.75509496C>T Copied from the Exome Variant Server DGAT2_000051 137/12986 2/8586 135/4400
?/? c.1012+23A>G r.(=) p.(=) g.75509497A>G Copied from the Exome Variant Server DGAT2_000052 1/12986 1/8586 0/4400
?/? c.1013-26C>T r.(=) p.(=) g.75511373C>T Copied from the Exome Variant Server DGAT2_000053 1/12986 0/8586 1/4400
?/? c.1013-8C>G r.(=) p.(=) g.75511391C>G Copied from the Exome Variant Server DGAT2_000054 1/12986 1/8586 0/4400
?/? c.1034C>T r.(?) p.(Pro345Leu) g.75511420C>T Copied from the Exome Variant Server DGAT2_000055 5/12986 5/8586 0/4400
?/? c.1077C>T r.(=) p.(=) g.75511463C>T Copied from the Exome Variant Server DGAT2_000056 1/12986 0/8586 1/4400
?/? c.1083G>A r.(?) p.(Met361Ile) g.75511469G>A Copied from the Exome Variant Server DGAT2_000057 389/12986 11/8586 378/4400
?/? c.1087A>C r.(?) p.(Met363Leu) g.75511473A>C Copied from the Exome Variant Server DGAT2_000058 1/12986 1/8586 0/4400
?/? c.1111G>A r.(?) p.(Asp371Asn) g.75511497G>A Copied from the Exome Variant Server DGAT2_000059 1/12986 1/8586 0/4400
?/? c.1117C>A r.(?) p.(His373Asn) g.75511503C>A Copied from the Exome Variant Server DGAT2_000060 2/12986 0/8586 2/4400
?/? c.1131C>T r.(=) p.(=) g.75511517C>T Copied from the Exome Variant Server DGAT2_000061 2/12986 0/8586 2/4400
?/? c.*10C>T r.(=) p.(=) g.75511563C>T Copied from the Exome Variant Server DGAT2_000062 2/12986 2/8586 0/4400
?/? c.*14G>A r.(=) p.(=) g.75511567G>A Copied from the Exome Variant Server DGAT2_000063 2/12984 0/8586 2/4398
?/? c.*19T>C r.(=) p.(=) g.75511572T>C Copied from the Exome Variant Server DGAT2_000064 2819/12984 795/8586 2024/4398
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