Transcript #00010945

Transcript name laminin, beta 2 (laminin S)
Gene name LAMB2 (laminin, beta 2 (laminin S))
Chromosome 3
Transcript - NCBI ID NM_002292.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002283.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

195 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     
?/? 1 c.-1925G>C r.(?) p.(=) -
?/? 1 c.-408_-404delTAGTT r.(?) p.(=) -
?/? 1 c.-165C>A r.(?) p.(=) -
+?/? 1_32 c.? r.(?) p.? -
+/. - c.55C>T r.(?) p.(Arg19Ter) -
?/? 2 c.109C>G r.(?) p.(Pro37Ala) -
-?/. - c.109C>G r.(?) p.(Pro37Ala) -
+/? 2 c.235_237del r.(?) p.(Val79del) -
+/? 2 c.235_237del r.(?) p.(Val79del) -
+/? 2 c.235_237del r.(?) p.(Val79del) -
+/? 2 c.240T>G r.(?) p.(Ser80Arg) -
+/? 2 c.240T>G r.(?) p.(Ser80Arg) -
-/? 3i c.250-97A>G r.(=) p.(=) -
-/. - c.261G>A r.(?) p.(Lys87=) -
-/. - c.261G>A r.(?) p.(Lys87=) -
+?/. 4 c.280C>T r.(?) p.(Arg94Trp) -
-/? 3 c.306C>T r.(?) p.(=) -
-/. - c.306C>T r.(?) p.(Asn102=) -
-/. - c.306C>T r.(?) p.(Asn102=) -
+/? 3 c.373C>T r.(?) p.(Gln125*) -
+/? 4 c.416T>C r.(?) p.(Leu139Pro) -
+/? 4 c.416T>C r.(?) p.(Leu139Pro) -
+/? 4 c.416T>C r.(?) p.(Leu139Pro) -
+/? 4 c.416T>C r.(?) p.(Leu139Pro) -
+/? 4 c.416T>C r.(?) p.(Leu139Pro) -
+/? 4 c.416T>C r.(?) p.(Leu139Pro) -
+/? 4 c.447_449del r.(?) p.(Ile149del) -
+/? 5 c.499G>T r.(?) p.(Asp167Tyr) -
+/? 5 c.499G>T r.(?) p.(Asp167Tyr) -
-?/. - c.510C>T r.(?) p.(Arg170=) -
-/. - c.510C>T r.(?) p.(Arg170=) -
+/? 5 c.536C>T r.(?) p.(Ser179Phe) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) -
+/? 7 c.737G>A r.(?) p.(Arg246Gln) -
+/? 7 c.737G>A r.(?) p.(Arg246Gln) -
+/? 7 c.737G>A r.(?) p.(Arg246Gln) -
+/? 7 c.737G>A r.(?) p.(Arg246Gln) -
+/? 7 c.825T>A r.(?) p.(Tyr275*) -
+/? 7 c.825T>A r.(?) p.(Tyr275*) -
+/? 8 c.961T>C r.(?) p.(Cys321Arg) -
+/? 8 c.961T>C r.(?) p.(Cys321Arg) -
+?/. - c.961T>C r.(?) p.(Cys321Arg) -
-/? 8 c.1014C>T r.(?) p.(=) -
+/? 8i c.1036+6_1036+9del r.spl? p.(=) -
+/? 8i c.1036+6_1036+9del r.spl? p.(=) -
+/? 9 c.1122T>A r.(?) p.(Cys374*) -
+/? 9 c.1122T>A r.(?) p.(Cys374*) -
?/? 9 c.1193C>T r.(?) p.(Thr398Ile) -
?/. - c.1205G>A r.(?) p.(Arg402Gln) -
+/? 10 c.1241_1242dup r.(?) p.(Met415Profs*83) -
+/? 10 c.1252C>T r.(?) p.(Gln418*) -
?/? 10 c.1403G>T r.(?) p.(Arg468Leu) -
+/? 10i c.1405+1G>A r.spl? p.(=) -
+/? 10i c.1405+1G>A r.spl? p.(=) -
+/? 10i c.1405+1G>A r.spl? p.(=) -
+/? 11 c.1477del r.(?) p.(Cys493Alafs*4) -
+/? 11 c.1477del r.(?) p.(Cys493Alafs*4) -
+/? 11 c.1478del r.(?) p.(Cys493Serfs*4) -
+/? 11 c.1503_1504del r.(?) p.(Cys502*) -
+/? 13 c.1723C>T r.(?) p.(Arg575*) -
+/? 13 c.1723C>T r.(?) p.(Arg575*) -
-/. - c.1724G>A r.(?) p.(Arg575Gln) -
?/? 13 c.1724G>A r.(?) p.(Arg575Gln) -
-?/. - c.1724G>A r.(?) p.(Arg575Gln) -
-/. - c.1764C>T r.(?) p.(Pro588=) -
-/? 14 c.1764C>T r.(?) p.(=) -
./. - c.1862A>G r.(?) p.(Tyr621Cys) -
+/? 14 c.1875_1879del r.(?) p.(Leu627Alafs*5) -
-/? 14i c.1890+25G>A r.(=) p.(=) -
?/. - c.1931G>A r.(?) p.(Arg644His) -
+/. - c.2022C>G r.(?) p.(Tyr674Ter) -
-/? 16 c.2034T>C r.(?) p.(=) -
+/? 16 c.2067C>G r.(?) p.(Tyr689*) -
+/? 16 c.2067C>G r.(?) p.(Tyr689*) -
?/? 16 c.2099G>A r.(?) p.(Gly700Glu) -
?/. - c.2236C>T r.(?) p.(Arg746Cys) -
+/? 17 c.2283_2286del r.(?) p.(Ser762Argfs*29) -
-/? 17 c.2307C>T r.(?) p.(=) -
-?/. - c.2307C>T r.(?) p.(Leu769=) -
+/? 18 c.2422del r.(?) p.(Val808Trpfs*343) -
+/? 18 c.2422del r.(?) p.(Val808Trpfs*343) -
-?/. - c.2459A>T r.(?) p.(Tyr820Phe) -
-/? 18i c.2489-62C>T r.(=) p.(=) -
+/? 19 c.2602C>T r.(?) p.(Gln868*) -
?/? 19 c.2644C>T r.(?) p.(His882Tyr) -
-/? 19 c.2673C>T r.(?) p.(=) -
-/. - c.2673C>T r.(?) p.(Gly891=) -
-?/. - c.2740G>A r.(?) p.(Gly914Arg) -
-?/. - c.2740G>A r.(?) p.(Gly914Arg) -
-/? 20 c.2740G>A r.(?) p.(Gly914Arg) -
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