All transcript variants in gene HMGA2

Information The variants shown are described using the NM_003483.4 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.112-49C>A r.(=) p.(=) g.66221732C>A Copied from the Exome Variant Server HMGA2_000001 149/13006 133/8600 16/4406
?/? c.112-22del r.(=) p.(=) g.66221759del Copied from the Exome Variant Server HMGA2_000002 97/12518 60/8254 37/4264
?/? c.114A>G r.(=) p.(=) g.66221783A>G Copied from the Exome Variant Server HMGA2_000003 1/13006 1/8600 0/4406
?/? c.126G>A r.(=) p.(=) g.66221795G>A Copied from the Exome Variant Server HMGA2_000004 1/13006 1/8600 0/4406
?/? c.181T>C r.(?) p.(Ser61Pro) g.66221850T>C Copied from the Exome Variant Server HMGA2_000005 1/13006 1/8600 0/4406
?/? c.198+36C>T r.(=) p.(=) g.66221903C>T Copied from the Exome Variant Server HMGA2_000006 18/13006 1/8600 17/4406
?/? c.199-34A>G r.(=) p.(=) g.66232265A>G Copied from the Exome Variant Server HMGA2_000007 8/13006 0/8600 8/4406
?/? c.199-26A>G r.(=) p.(=) g.66232273A>G Copied from the Exome Variant Server HMGA2_000008 5/13006 1/8600 4/4406
?/? c.199-25T>C r.(=) p.(=) g.66232274T>C Copied from the Exome Variant Server HMGA2_000009 1/13006 1/8600 0/4406
?/? c.199-15C>A r.(=) p.(=) g.66232284C>A Copied from the Exome Variant Server HMGA2_000010 2/13006 0/8600 2/4406
?/? c.199-8A>G r.(=) p.(=) g.66232291A>G Copied from the Exome Variant Server HMGA2_000011 122/13006 0/8600 122/4406
?/? c.202_205del r.(?) p.(Ala68Lysfs*97) g.66232302_66232305del Copied from the Exome Variant Server HMGA2_000012 3/12518 1/8254 2/4264
?/? c.249+6T>A r.(=) p.(=) g.66232355T>A Copied from the Exome Variant Server HMGA2_000013 228/13004 207/8598 21/4406
?/? c.249+28del r.(=) p.(=) g.66232377del Copied from the Exome Variant Server HMGA2_000014 23/12448 16/8226 7/4222
?/? c.249+29T>C r.(=) p.(=) g.66232378T>C Copied from the Exome Variant Server HMGA2_000015 540/12964 20/8576 520/4388
?/? c.249+34_249+35insG r.(=) p.(=) g.66232383_66232384insG Copied from the Exome Variant Server HMGA2_000016 1003/12456 675/8226 328/4230
?/? c.250-36375C>A r.(=) p.(=) g.66308788C>A Copied from the Exome Variant Server HMGA2_000017 24/13006 0/8600 24/4406
?/? c.250-36358T>C r.(=) p.(=) g.66308805T>C Copied from the Exome Variant Server HMGA2_000018 1/13006 0/8600 1/4406
?/? c.250-36342C>T r.(=) p.(=) g.66308821C>T Copied from the Exome Variant Server HMGA2_000019 1/13006 0/8600 1/4406
?/? c.250-36304C>G r.(=) p.(=) g.66308859C>G Copied from the Exome Variant Server HMGA2_000020 2/13006 2/8600 0/4406
?/? c.250-36280G>A r.(=) p.(=) g.66308883G>A Copied from the Exome Variant Server HMGA2_000021 1/13006 0/8600 1/4406
?/? c.250-36277A>C r.(=) p.(=) g.66308886A>C Copied from the Exome Variant Server HMGA2_000022 1/13006 1/8600 0/4406
?/? c.250-36267A>G r.(=) p.(=) g.66308896A>G Copied from the Exome Variant Server HMGA2_000023 34/13006 29/8600 5/4406
?/? c.250-36254G>A r.(=) p.(=) g.66308909G>A Copied from the Exome Variant Server HMGA2_000025 4/13006 0/8600 4/4406
?/? c.250-36220A>G r.(=) p.(=) g.66308943A>G Copied from the Exome Variant Server HMGA2_000026 1/13006 0/8600 1/4406
?/? c.250-36205T>C r.(=) p.(=) g.66308958T>C Copied from the Exome Variant Server HMGA2_000024 2/13006 1/8600 1/4406
?/? c.252_254del r.(?) p.(Gln86del) g.66345165_66345167del Copied from the Exome Variant Server HMGA2_000027 1/10710 0/7428 1/3282
?/? c.282+30C>T r.(=) p.(=) g.66345225C>T Copied from the Exome Variant Server HMGA2_000028 1/11010 1/7628 0/3382
?/? c.283-25T>C r.(=) p.(=) g.66357000T>C Copied from the Exome Variant Server HMGA2_000029 464/12428 6/8382 458/4046
?/? c.300A>T r.(=) p.(=) g.66357042A>T Copied from the Exome Variant Server HMGA2_000030 2/12248 0/8308 2/3940
?/? c.315T>C r.(=) p.(=) g.66357057T>C Copied from the Exome Variant Server HMGA2_000031 12/12178 6/8276 6/3902
?/? c.*2G>A r.(=) p.(=) g.66357074G>A Copied from the Exome Variant Server HMGA2_000032 5/12122 0/8240 5/3882
?/? c.*4G>A r.(=) p.(=) g.66357076G>A Copied from the Exome Variant Server HMGA2_000033 1/12116 1/8238 0/3878
?/? c.*16G>A r.(=) p.(=) g.66357088G>A Copied from the Exome Variant Server HMGA2_000034 1/12092 1/8232 0/3860
?/? c.*34A>C r.(=) p.(=) g.66357106A>C Copied from the Exome Variant Server HMGA2_000035 3/12040 3/8218 0/3822
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