All transcript variants in gene CLDN2

Information The variants shown are described using the NM_001171092.1 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-179+242C>T r.(=) p.(=) g.106143976C>T Copied from the Exome Variant Server CLDN2_000001 1/10170 1/6574 0/3596
?/? c.-179+289C>T r.(?) p.(Glu91Lys) g.106144023C>T Copied from the Exome Variant Server CLDN2_000002 1/10087 1/6545 0/3542
?/? c.-179+293G>C r.(?) p.(Ser89Arg) g.106144027G>C Copied from the Exome Variant Server CLDN2_000003 2/10079 2/6545 0/3534
?/? c.-179+308G>A r.(=) p.(=) g.106144042G>A Copied from the Exome Variant Server CLDN2_000004 55/10007 0/6523 55/3484
?/? c.-179+339T>C r.(?) p.(Asn74Ser) g.106144073T>C Copied from the Exome Variant Server CLDN2_000005 9/9857 9/6485 0/3372
?/? c.-179+370G>A r.(=) p.(=) g.106144104G>A Copied from the Exome Variant Server CLDN2_000006 17/9691 0/6425 17/3266
?/? c.-179+384C>T r.(?) p.(Arg59His) g.106144118C>T Copied from the Exome Variant Server CLDN2_000007 1/9674 1/6420 0/3254
?/? c.-179+392A>G r.(=) p.(=) g.106144126A>G Copied from the Exome Variant Server CLDN2_000008 1/9637 0/6417 1/3220
?/? c.-179+400A>G r.(?) p.(Phe54Leu) g.106144134A>G Copied from the Exome Variant Server CLDN2_000009 1/9612 1/6412 0/3200
?/? c.-179+418A>G r.(=) p.(=) g.106144152A>G Copied from the Exome Variant Server CLDN2_000010 1/9556 1/6408 0/3148
?/? c.-179+446T>C r.(=) p.(=) g.106144180T>C Copied from the Exome Variant Server CLDN2_000011 1/9512 0/6398 1/3114
?/? c.-179+940C>T r.(=) p.(=) g.106144674C>T Copied from the Exome Variant Server CLDN2_000012 125/9846 1/6492 124/3354
?/? c.-179+997G>A r.(=) p.(=) g.106144731G>A Copied from the Exome Variant Server CLDN2_000013 33/10049 0/6541 33/3508
?/? c.-179+1017C>T r.(=) p.(=) g.106144751C>T Copied from the Exome Variant Server CLDN2_000014 34/10028 1/6540 33/3488
?/? c.-179+1064C>A r.(=) p.(=) g.106144798C>A Copied from the Exome Variant Server CLDN2_000015 13/9928 0/6526 13/3402
?/? c.-179+1077T>C r.(=) p.(=) g.106144811T>C Copied from the Exome Variant Server CLDN2_000016 1/9872 1/6510 0/3362
?/? c.-179+1093C>T r.(=) p.(=) g.106144827C>T Copied from the Exome Variant Server CLDN2_000017 62/3600 0/2391 62/1209
?/? c.-179+2615T>C r.(=) p.(=) g.106146349T>C Copied from the Exome Variant Server CLDN2_000018 2070/9892 12/6500 2058/3392
?/? c.-179+2690G>T r.(?) p.(Pro32Thr) g.106146424G>T Copied from the Exome Variant Server CLDN2_000019 1/10089 1/6555 0/3534
?/? c.-179+2749G>A r.(?) p.(Pro12Leu) g.106146483G>A Copied from the Exome Variant Server CLDN2_000020 1/10134 0/6552 1/3582
?/? c.-179+2777A>G r.(?) p.(Ser3Pro) g.106146511A>G Copied from the Exome Variant Server CLDN2_000022 2/10083 1/6551 1/3532
?/? c.-179+2783T>C r.? p.? g.106146517T>C Copied from the Exome Variant Server CLDN2_000024 1/10050 1/6542 0/3508
?/? c.-179+2784T>A r.(=) p.(=) g.106146518T>A Copied from the Exome Variant Server CLDN2_000026 1/10027 0/6539 1/3488
?/? c.-179+2788A>C r.(=) p.(=) g.106146522A>C Copied from the Exome Variant Server CLDN2_000028 1/10012 0/6532 1/3480
?/? c.56T>C r.(?) p.(Leu19Ser) g.106171514T>C Copied from the Exome Variant Server CLDN2_000030 1/10563 1/6728 0/3835
?/? c.62C>T r.(?) p.(Thr21Ile) g.106171520C>T Copied from the Exome Variant Server CLDN2_000032 1/10563 1/6728 0/3835
?/? c.87C>T r.(=) p.(=) g.106171545C>T Copied from the Exome Variant Server CLDN2_000034 3/10563 2/6728 1/3835
?/? c.201T>C r.(=) p.(=) g.106171659T>C Copied from the Exome Variant Server CLDN2_000035 5/10563 3/6728 2/3835
?/? c.222C>T r.(=) p.(=) g.106171680C>T Copied from the Exome Variant Server CLDN2_000036 1/10563 1/6728 0/3835
?/? c.223G>A r.(?) p.(Ala75Thr) g.106171681G>A Copied from the Exome Variant Server CLDN2_000037 1/10563 0/6728 1/3835
?/? c.428T>A r.(?) p.(Ile143Asn) g.106171886T>A Copied from the Exome Variant Server CLDN2_000038 1/10563 1/6728 0/3835
?/? c.462C>T r.(=) p.(=) g.106171920C>T Copied from the Exome Variant Server CLDN2_000021 1/10563 0/6728 1/3835
?/? c.473T>A r.(?) p.(Phe158Tyr) g.106171931T>A Copied from the Exome Variant Server CLDN2_000023 27/10563 0/6728 27/3835
?/? c.560C>T r.(?) p.(Ser187Phe) g.106172018C>T Copied from the Exome Variant Server CLDN2_000025 1/10563 1/6728 0/3835
?/? c.572G>A r.(?) p.(Arg191His) g.106172030G>A Copied from the Exome Variant Server CLDN2_000027 7/10563 0/6728 7/3835
?/? c.615A>C r.(=) p.(=) g.106172073A>C Copied from the Exome Variant Server CLDN2_000029 1/10563 0/6728 1/3835
?/? c.646A>G r.(?) p.(Lys216Glu) g.106172104A>G Copied from the Exome Variant Server CLDN2_000031 3/10563 0/6728 3/3835
?/? c.*36_*37del r.(=) p.(=) g.106172187_106172188del Copied from the Exome Variant Server CLDN2_000033 2/10181 2/6465 0/3716
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