Unique variants in gene IGF2

Information The variants shown are described using the NM_000612.4 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-2498G>A r.(=) p.(=) g.2161950C>T Copied from the Exome Variant Server IGF2_000056 3/7828 3/5532 0/2296
1 c.-2406T>C r.(=) p.(=) g.2161858A>G Copied from the Exome Variant Server IGF2_000054 5641/8706 4206/6042 1435/2664
1 c.-2105G>A r.(=) p.(=) g.2161557C>T Copied from the Exome Variant Server IGF2_000052 1/10294 0/7160 1/3134
1 c.-2078G>A r.(=) p.(=) g.2161530C>T Copied from the Exome Variant Server IGF2_000050 9/10296 5/7162 4/3134
1 c.-2047G>C r.(=) p.(=) g.2161499C>G Copied from the Exome Variant Server IGF2_000048 1/10296 0/7162 1/3134
1 c.-2036C>G r.(=) p.(=) g.2161488G>C Copied from the Exome Variant Server IGF2_000046 372/10296 5/7162 367/3134
1 c.-1998A>G r.(=) p.(=) g.2161450T>C Copied from the Exome Variant Server IGF2_000045 1/10296 1/7162 0/3134
1 c.-1985C>T r.(=) p.(=) g.2161437G>A Copied from the Exome Variant Server IGF2_000043 80/10296 0/7162 80/3134
1 c.-1978C>T r.(=) p.(=) g.2161430G>A Copied from the Exome Variant Server IGF2_000041 7/10296 7/7162 0/3134
1 c.-1932C>G r.(=) p.(=) g.2161384G>C Copied from the Exome Variant Server IGF2_000039 1/10296 0/7162 1/3134
1 c.-1913G>C r.(=) p.(=) g.2161365C>G Copied from the Exome Variant Server IGF2_000037 1/10296 0/7162 1/3134
1 c.-1903G>T r.(=) p.(=) g.2161355C>A Copied from the Exome Variant Server IGF2_000061 1/10296 0/7162 1/3134
1 c.-1871_-1870del r.(=) p.(=) g.2161322_2161323del Copied from the Exome Variant Server IGF2_000060 1/10292 1/7030 0/3262
1 c.-6-39del r.(=) p.(=) g.2156798del Copied from the Exome Variant Server IGF2_000059 1/12518 0/8254 1/4264
1 c.-6-31C>G r.(=) p.(=) g.2156790G>C Copied from the Exome Variant Server IGF2_000058 1/13002 0/8598 1/4404
1 c.-6-29C>T r.(=) p.(=) g.2156788G>A Copied from the Exome Variant Server IGF2_000057 2/13002 2/8598 0/4404
1 c.-6-23C>T r.(=) p.(=) g.2156782G>A Copied from the Exome Variant Server IGF2_000055 1/13002 0/8598 1/4404
1 c.-6-22G>A r.(=) p.(=) g.2156781C>T Copied from the Exome Variant Server IGF2_000053 1/13002 0/8598 1/4404
1 c.21G>T r.(?) p.(Lys7Asn) g.2156733C>A Copied from the Exome Variant Server IGF2_000051 4/13002 4/8598 0/4404
1 c.24G>A r.(=) p.(=) g.2156730C>T Copied from the Exome Variant Server IGF2_000049 2/13002 1/8598 1/4404
1 c.59C>T r.(?) p.(Ser20Leu) g.2156695G>A Copied from the Exome Variant Server IGF2_000047 2/13002 2/8598 0/4404
1 c.129C>T r.(=) p.(=) g.2156625G>A Copied from the Exome Variant Server IGF2_000044 2/13000 0/8598 2/4402
1 c.157+18G>C r.(=) p.(=) g.2156579C>G Copied from the Exome Variant Server IGF2_000042 5/12992 0/8592 5/4400
1 c.157+52C>T r.(=) p.(=) g.2156545G>A Copied from the Exome Variant Server IGF2_000040 1/5660 0/3944 1/1716
1 c.158-580G>A r.(=) p.(=) g.2155475C>T Copied from the Exome Variant Server IGF2_000038 23/10242 0/7136 23/3106
1 c.158-573C>G r.(=) p.(=) g.2155468G>C Copied from the Exome Variant Server IGF2_000036 16/10256 0/7144 16/3112
1 c.158-543del r.(=) p.(=) g.2155438del Copied from the Exome Variant Server IGF2_000035 4/11588 3/7596 1/3992
1 c.158-540G>A r.(=) p.(=) g.2155435C>T Copied from the Exome Variant Server IGF2_000034 1/10278 1/7158 0/3120
1 c.158-482C>T r.(=) p.(=) g.2155377G>A Copied from the Exome Variant Server IGF2_000033 1/10284 1/7160 0/3124
1 c.158-440C>T r.(=) p.(=) g.2155335G>A Copied from the Exome Variant Server IGF2_000032 13/10276 0/7150 13/3126
1 c.158-40C>T r.(=) p.(=) g.2154935G>A Copied from the Exome Variant Server IGF2_000031 1/12982 0/8590 1/4392
1 c.158-39G>A r.(=) p.(=) g.2154934C>T Copied from the Exome Variant Server IGF2_000030 1/12986 1/8590 0/4396
1 c.158-28G>A r.(=) p.(=) g.2154923C>T Copied from the Exome Variant Server IGF2_000028 1/12992 1/8594 0/4398
1 c.158-26C>G r.(=) p.(=) g.2154921G>C Copied from the Exome Variant Server IGF2_000026 360/12994 18/8596 342/4398
1 c.191G>A r.(?) p.(Arg64His) g.2154862C>T Copied from the Exome Variant Server IGF2_000024 1/13000 0/8596 1/4404
1 c.194G>A r.(?) p.(Gly65Asp) g.2154859C>T Copied from the Exome Variant Server IGF2_000022 1/13002 0/8598 1/4404
1 c.198C>T r.(=) p.(=) g.2154855G>A Copied from the Exome Variant Server IGF2_000029 1/13002 0/8598 1/4404
1 c.234C>G r.(=) p.(=) g.2154819G>C Copied from the Exome Variant Server IGF2_000027 105/13002 12/8598 93/4404
1 c.240G>A r.(=) p.(=) g.2154813C>T Copied from the Exome Variant Server IGF2_000025 8/13002 7/8598 1/4404
1 c.270C>T r.(=) p.(=) g.2154783G>A Copied from the Exome Variant Server IGF2_000023 1/13000 1/8596 0/4404
1 c.293C>T r.(?) p.(Pro98Leu) g.2154760G>A Copied from the Exome Variant Server IGF2_000021 1/12998 1/8594 0/4404
1 c.305C>T r.(?) p.(Pro102Leu) g.2154748G>A Copied from the Exome Variant Server IGF2_000020 1/13000 1/8596 0/4404
1 c.306+35G>A r.(=) p.(=) g.2154712C>T Copied from the Exome Variant Server IGF2_000019 1/12998 1/8596 0/4402
1 c.307-51C>T r.(=) p.(=) g.2154504G>A Copied from the Exome Variant Server IGF2_000018 6/12708 6/8436 0/4272
1 c.328G>A r.(?) p.(Val110Met) g.2154432C>T Copied from the Exome Variant Server IGF2_000017 1/12986 1/8588 0/4398
1 c.381C>T r.(=) p.(=) g.2154379G>A Copied from the Exome Variant Server IGF2_000016 1/12996 1/8594 0/4402
1 c.412C>T r.(?) p.(Arg138Trp) g.2154348G>A Copied from the Exome Variant Server IGF2_000015 1/13000 1/8596 0/4404
1 c.416G>T r.(?) p.(Gly139Val) g.2154344C>A Copied from the Exome Variant Server IGF2_000014 1/13000 0/8596 1/4404
1 c.421G>A r.(?) p.(Val141Met) g.2154339C>T Copied from the Exome Variant Server IGF2_000013 2/13000 0/8596 2/4404
1 c.426C>T r.(=) p.(=) g.2154334G>A Copied from the Exome Variant Server IGF2_000012 1/13000 1/8596 0/4404
1 c.439G>A r.(?) p.(Glu147Lys) g.2154321C>T Copied from the Exome Variant Server IGF2_000011 3/13000 2/8596 1/4404
1 c.441G>A r.(=) p.(=) g.2154319C>T Copied from the Exome Variant Server IGF2_000010 2/13000 2/8596 0/4404
1 c.443C>T r.(?) p.(Ala148Val) g.2154317G>A Copied from the Exome Variant Server IGF2_000009 2/13000 2/8596 0/4404
1 c.461G>C r.(?) p.(Arg154Pro) g.2154299C>G Copied from the Exome Variant Server IGF2_000008 1/13002 0/8598 1/4404
1 c.467G>A r.(?) p.(Arg156His) g.2154293C>T Copied from the Exome Variant Server IGF2_000007 145/13002 5/8598 140/4404
1 c.472del r.(?) p.(Leu158*) g.2154288del Copied from the Exome Variant Server IGF2_000006 34/12518 20/8254 14/4264
1 c.499G>T r.(?) p.(Ala167Ser) g.2154261C>A Copied from the Exome Variant Server IGF2_000005 1/13000 1/8598 0/4402
1 c.510C>T r.(=) p.(=) g.2154250G>A Copied from the Exome Variant Server IGF2_000004 1/12996 0/8594 1/4402
1 c.*14A>G r.(=) p.(=) g.2154203T>C Copied from the Exome Variant Server IGF2_000003 10/12950 0/8564 10/4386
1 c.*26C>T r.(=) p.(=) g.2154191G>A Copied from the Exome Variant Server IGF2_000002 1/12914 0/8542 1/4372
1 c.*29C>T r.(=) p.(=) g.2154188G>A Copied from the Exome Variant Server IGF2_000001 832/12892 639/8526 193/4366
Legend