All transcript variants in gene LAMP2

Information The variants shown are described using the NM_001122606.1 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-33C>T r.(=) p.(=) g.119603057G>A Copied from the Exome Variant Server LAMP2_000057 9/10532 0/6714 9/3818
?/? c.-23_-15del r.(=) p.(=) g.119603039_119603047del Copied from the Exome Variant Server LAMP2_000056 126/10154 104/6459 22/3695
?/? c.-10C>T r.(=) p.(=) g.119603034G>A Copied from the Exome Variant Server LAMP2_000055 1/10552 1/6722 0/3830
?/? c.-4G>C r.(=) p.(=) g.119603028C>G Copied from the Exome Variant Server LAMP2_000054 1/10553 1/6723 0/3830
?/? c.34T>A r.(?) p.(Ser12Thr) g.119602991A>T Copied from the Exome Variant Server LAMP2_000053 1/10562 1/6727 0/3835
?/? c.64+33C>T r.(=) p.(=) g.119602928G>A Copied from the Exome Variant Server LAMP2_000052 2/10563 0/6728 2/3835
?/? c.65-22T>C r.(=) p.(=) g.119590646A>G Copied from the Exome Variant Server LAMP2_000051 4/10347 0/6610 4/3737
?/? c.94A>G r.(?) p.(Asn32Asp) g.119590595T>C Copied from the Exome Variant Server LAMP2_000050 1/10563 1/6728 0/3835
?/? c.156A>T r.(=) p.(=) g.119590533T>A Copied from the Exome Variant Server LAMP2_000049 4210/10563 2867/6728 1343/3835
?/? c.204C>G r.(?) p.(Asp68Glu) g.119589405G>C Copied from the Exome Variant Server LAMP2_000048 1/10563 0/6728 1/3835
?/? c.253G>A r.(?) p.(Gly85Ser) g.119589356C>T Copied from the Exome Variant Server LAMP2_000047 1/10563 1/6728 0/3835
?/? c.339C>T r.(=) p.(=) g.119589270G>A Copied from the Exome Variant Server LAMP2_000046 7/10563 7/6728 0/3835
?/? c.340G>A r.(?) p.(Val114Ile) g.119589269C>T Copied from the Exome Variant Server LAMP2_000045 1/10563 1/6728 0/3835
?/? c.385G>A r.(?) p.(Ala129Thr) g.119589224C>T Copied from the Exome Variant Server LAMP2_000044 3/10563 0/6728 3/3835
?/? c.415G>A r.(?) p.(Glu139Lys) g.119582966C>T Copied from the Exome Variant Server LAMP2_000043 1/10563 1/6728 0/3835
?/? c.472A>G r.(?) p.(Thr158Ala) g.119582909T>C Copied from the Exome Variant Server LAMP2_000042 3/10562 2/6727 1/3835
?/? c.504C>T r.(=) p.(=) g.119582877G>A Copied from the Exome Variant Server LAMP2_000041 8/10562 0/6727 8/3835
?/? c.515T>C r.(?) p.(Leu172Pro) g.119582866A>G Copied from the Exome Variant Server LAMP2_000040 1/10563 1/6728 0/3835
?/? c.517G>A r.(?) p.(Val173Ile) g.119582864C>T Copied from the Exome Variant Server LAMP2_000039 2/10563 2/6728 0/3835
?/? c.557-36G>A r.(=) p.(=) g.119581916C>T Copied from the Exome Variant Server LAMP2_000038 1/10563 0/6728 1/3835
?/? c.586A>T r.(?) p.(Thr196Ser) g.119581851T>A Copied from the Exome Variant Server LAMP2_000037 5/10563 3/6728 2/3835
?/? c.591G>A r.(=) p.(=) g.119581846C>T Copied from the Exome Variant Server LAMP2_000036 1/10563 1/6728 0/3835
?/? c.661G>A r.(?) p.(Gly221Arg) g.119581776C>T Copied from the Exome Variant Server LAMP2_000035 21/10563 17/6728 4/3835
?/? c.755T>G r.(?) p.(Ile252Ser) g.119580269A>C Copied from the Exome Variant Server LAMP2_000034 18/10563 17/6728 1/3835
?/? c.769A>G r.(?) p.(Asn257Asp) g.119580255T>C Copied from the Exome Variant Server LAMP2_000033 1/10563 0/6728 1/3835
?/? c.771T>C r.(=) p.(=) g.119580253A>G Copied from the Exome Variant Server LAMP2_000032 1/10563 0/6728 1/3835
?/? c.823A>G r.(?) p.(Asn275Asp) g.119580201T>C Copied from the Exome Variant Server LAMP2_000031 1/10563 1/6728 0/3835
?/? c.850T>C r.(?) p.(Phe284Leu) g.119580174A>G Copied from the Exome Variant Server LAMP2_000030 1/10563 0/6728 1/3835
?/? c.864+46C>T r.(=) p.(=) g.119580114G>A Copied from the Exome Variant Server LAMP2_000029 2/10563 2/6728 0/3835
?/? c.865-46A>G r.(=) p.(=) g.119576563T>C Copied from the Exome Variant Server LAMP2_000028 1/10563 1/6728 0/3835
?/? c.865-38G>A r.(=) p.(=) g.119576555C>T Copied from the Exome Variant Server LAMP2_000027 1/10563 1/6728 0/3835
?/? c.927C>T r.(=) p.(=) g.119576455G>A Copied from the Exome Variant Server LAMP2_000026 303/10563 274/6728 29/3835
?/? c.928+29G>T r.(=) p.(=) g.119576425C>A Copied from the Exome Variant Server LAMP2_000025 2/10563 0/6728 2/3835
?/? c.929-35A>T r.(=) p.(=) g.119575784T>A Copied from the Exome Variant Server LAMP2_000024 23/10560 0/6726 23/3834
?/? c.929-5T>C r.spl? p.? g.119575754A>G Copied from the Exome Variant Server LAMP2_000023 1/10562 1/6728 0/3834
?/? c.960C>T r.(=) p.(=) g.119575718G>A Copied from the Exome Variant Server LAMP2_000022 1/10563 0/6728 1/3835
?/? c.1003C>G r.(?) p.(Gln335Glu) g.119575675G>C Copied from the Exome Variant Server LAMP2_000021 1/10563 0/6728 1/3835
?/? c.1084T>C r.(?) p.(Tyr362His) g.119575594A>G Copied from the Exome Variant Server LAMP2_000020 1/10563 0/6728 1/3835
?/? c.1093+5G>A r.spl? p.? g.119575580C>T Copied from the Exome Variant Server LAMP2_000019 1/10563 1/6728 0/3835
?/? c.1093+9C>T r.(=) p.(=) g.119575576G>A Copied from the Exome Variant Server LAMP2_000018 1/10563 1/6728 0/3835
?/? c.1093+2416C>T r.(=) p.(=) g.119573169G>A Copied from the Exome Variant Server LAMP2_000017 1/10563 1/6728 0/3835
?/? c.1093+2450G>A r.(=) p.(=) g.119573135C>T Copied from the Exome Variant Server LAMP2_000016 2/10563 1/6728 1/3835
?/? c.1093+2478A>G r.(=) p.(=) g.119573107T>C Copied from the Exome Variant Server LAMP2_000015 2/10563 1/6728 1/3835
?/? c.1093+2513C>T r.(=) p.(=) g.119573072G>A Copied from the Exome Variant Server LAMP2_000014 1/10563 0/6728 1/3835
?/? c.1093+2514G>A r.(=) p.(=) g.119573071C>T Copied from the Exome Variant Server LAMP2_000013 47/10563 44/6728 3/3835
?/? c.1093+2531C>T r.(=) p.(=) g.119573054G>A Copied from the Exome Variant Server LAMP2_000012 1/10563 0/6728 1/3835
?/? c.1093+2568A>T r.(=) p.(=) g.119573017T>A Copied from the Exome Variant Server LAMP2_000011 1/10563 0/6728 1/3835
?/? c.1093+2589C>T r.(=) p.(=) g.119572996G>A Copied from the Exome Variant Server LAMP2_000010 1/10563 1/6728 0/3835
?/? c.1094-2813_1094-2811del r.(=) p.(=) g.119565292_119565294del Copied from the Exome Variant Server LAMP2_000009 1/10205 0/6484 1/3721
?/? c.1094-2788T>C r.(=) p.(=) g.119565269A>G Copied from the Exome Variant Server LAMP2_000008 6/10563 0/6728 6/3835
?/? c.1094-2768G>T r.(=) p.(=) g.119565249C>A Copied from the Exome Variant Server LAMP2_000007 1/10563 0/6728 1/3835
?/? c.1094-2682T>C r.(=) p.(=) g.119565163A>G Copied from the Exome Variant Server LAMP2_000006 6/10562 0/6727 6/3835
?/? c.1143A>G r.(=) p.(=) g.119562432T>C Copied from the Exome Variant Server LAMP2_000005 102/8125 0/5498 102/2627
?/? c.1177G>T r.(?) p.(Val393Phe) g.119562398C>A Copied from the Exome Variant Server LAMP2_000004 1/8125 1/5498 0/2627
?/? c.1191T>C r.(=) p.(=) g.119562384A>G Copied from the Exome Variant Server LAMP2_000003 1/8125 1/5498 0/2627
?/? c.1213C>A r.(?) p.(Arg405Ser) g.119562362G>T Copied from the Exome Variant Server LAMP2_000002 2/8125 0/5498 2/2627
?/? c.*34A>G r.(=) p.(=) g.119562305T>C Copied from the Exome Variant Server LAMP2_000001 2/8123 0/5496 2/2627
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