Transcript #00000468 (NM_001122606.1, LAMP2 gene)

Transcript name transcript variant C
Gene name LAMP2 (lysosomal-associated membrane protein 2)
Chromosome X
Transcript - NCBI ID NM_001122606.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001116078.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

275 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_1i c.-24864_65-3473del r.0? p.0?
-/. - c.-23_-15del r.(?) p.(=)
-/. - c.-23_-15del r.(?) p.(=)
+?/. 1 c.-23_-15del r.(?) p.(=)
-/. - c.-23_-15del r.(?) p.(=)
-/. - c.-23_-15dup r.(?) p.(=)
-/. - c.-4G>C r.(?) p.(=)
-?/. - c.-4G>C r.(?) p.(=)
-/. - c.661G>M r.(?) p.(Gly221Arg)
+/. _1_1i c.(?_1)_(64+1_65-1)del r.0? p.0?
?/. - c.4G>C r.(?) p.(Val2Leu)
-?/. - c.9C>T r.(?) p.(Cys3=)
./. - c.14del r.(?) p.(Arg5Profs*15)
+/. - c.29del r.(?) p.(Pro10Argfs*10)
+?/. - c.35_52del r.(?) p.(Ser12_Val17del)
./. - c.36_42del r.(?) p.(Gly13Phefs*5)
-?/. - c.42C>T r.(?) p.(Leu14=)
-/. - c.42C>T r.(?) p.(Leu14=)
-?/. - c.49G>A r.(?) p.(Val17Ile)
./. - c.56T>G r.(?) p.(Leu19Arg)
?/. - c.56T>G r.(?) p.(Leu19Arg)
+/. 1i c.64+1G>A r.spl p.?
+/. 1i c.64+1G>A r.spl p.?
+/. 1i c.64+1G>T r.4_64del p.Val2Glufs*12
-?/. - c.65-20A>T r.(=) p.(=)
?/. - c.65-13T>A r.(=) p.(=)
+/. 1i c.65-2A>G r.65_183del p.Gly22Glufs*14
./. - c.65-2A>G r.spl? p.?
?/. - c.73C>T r.(?) p.(Arg25Trp)
?/. - c.73C>T r.(?) p.(Arg25Trp)
-?/. - c.74G>A r.(?) p.(Arg25Gln)
-/. - c.85T>C r.(?) p.(Leu29=)
./. - c.103_104del r.(?) p.(Asp35Phefs*20)
?/. - c.112A>T r.(?) p.(Asn38Tyr)
-?/. - c.115_118del r.(?) p.(Ala39LeufsTer9)
+/. - c.124del r.(?) p.(Leu42Phefs*7)
+/. - c.127del r.(?) p.(Tyr43MetfsTer6)
+/. - c.128_129dup r.(?) p.(Ala44Metfs*6)
+/. 2 c.137G>A r.(?) p.(Trp46*)
./. 2 c.138G>A r.(?) p.(Trp46*)
+/. - c.139C>T r.(?) p.(Gln47Ter)
-/. - c.156A>T r.(?) p.(Val52=)
-/. 2 c.156A>T r.(=) p.(Val52=)
./. - c.156A>T r.(=) p.(=)
./. - c.156A>T r.(=) p.(=)
./. - c.156A>T r.(=) p.(=)
./. - c.156A>T r.(=) p.(=)
./. - c.156A>T r.(=) p.(=)
-/. - c.156A>T r.(?) p.(Val52=)
-?/. - c.157C>T r.(?) p.(Arg53Cys)
-?/. - c.157C>T r.(?) p.(Arg53Cys)
+/. 2 c.179del r.(?) p.(Thr60Ilefs*5)
+?/. - c.183+1G>A r.spl p.?
+/. 2i c.183+1G>A r.spl p.?
+?/. - c.183+5G>A r.spl? p.?
./. - c.184_190del r.(?) p.(Lys62*)
?/. - c.188C>T r.(?) p.(Thr63Ile)
-/. - c.188C>T r.(?) p.(Thr63Ile)
?/. - c.188C>T r.(?) p.(Thr63Ile)
?/. - c.188C>T r.(?) p.(Thr63Ile)
+/. 3 c.190_191del r.(?) p.(Val64Asnfs*11)
-?/. - c.209G>T r.(?) p.(Gly70Val)
-/. - c.213T>C r.(?) p.(Thr71=)
+/. - c.222_223del r.(?) p.(Tyr74*)
./. - c.239G>T r.(?) p.(Gly80Val)
+/. 3 c.241del r.(?) p.(Asp81Metfs*8)
+/. 3 c.247C>T r.(?) p.(Gln83*)
+/. 3 c.247C>T r.(?) p.(Gln83*)
+/. 3 c.257_258del r.(?) p.(Pro86Glnfs*26)
-?/. - c.267A>C r.(?) p.(Ala89=)
?/. - c.269T>A r.(?) p.(Val90Glu)
+/. - c.270_274del r.(?) p.(Gln91Argfs*20)
+/. 3 c.288_289del r.(?) p.(Ser97Leufs*15)
+/. 3 c.293G>A r.(?) p.(Trp98*)
+/. 3 c.294G>A r.(?) p.(Trp98*)
+/. 3 c.294G>A r.(?) p.(Trp98*)
+/. 3 c.294G>A r.294g>a p.Trp98*
./. - c.299C>T r.(?) p.(Ala100Val)
+/. 3 c.317_320dup r.(?) p.(Thr108Ilefs*6)
+/. 3 c.327T>A r.(?) p.(Tyr109*)
-?/. - c.339C>T r.(?) p.(Ser113=)
-?/. - c.339C>T r.(?) p.(Ser113=)
-/. - c.339C>T r.(?) p.(Ser113=)
-?/. - c.339C>T r.(?) p.(Ser113=)
-?/. - c.339C>T r.(?) p.(Ser113=)
?/. - c.358A>G r.(?) p.(Thr120Ala)
-?/. - c.358A>G r.(?) p.(Thr120Ala)
?/. - c.371C>T r.(?) p.(Thr124Ile)
-/. - c.372A>G r.(?) p.(Thr124=)
-/. - c.385G>A r.(?) p.(Ala129Thr)
-/. - c.397+16del r.(=) p.(=)
+/. 3i_5i c.397+1822_742-705dup r.[=, 398_741dup, 398_741dup;1093_1094ins1093+2437_1093+2614, 1093_1094ins1093+2437_1093+2654] p.?
?/. - c.398-5del r.spl? p.?
-?/. - c.398-5T>C r.spl? p.?
-?/. - c.398-5T>C r.spl? p.?
-?/. - c.398-4A>G r.spl? p.?
+/. 3i_9_ c.(397+1_398-1)_(*1_?)del r.? p.0
+/. 3i_9_ c.(397+1_398-1)_(*1_?)del r.? p.?
+/. 3i_9_ c.(397+1_398-1)_(*1_?)del r.? p.?
./. - c.405dup r.(?) p.(Thr136Tyrfs*3)
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