Transcript #00000110 (NM_002180.2, IGHMBP2 gene)

Transcript name immunoglobulin mu binding protein 2
Gene name IGHMBP2 (immunoglobulin mu binding protein 2)
Chromosome 11
Transcript - NCBI ID NM_002180.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002171.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

422 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. 7i_15_ c.(1060+1_1061-1)_(*1_?)del r.? p.?
+?/. - c.1418+1_1419-1)_(2784+1_2785-1)dup r.(?) p.(?)
-/. 1 c.-136_-135insCGCCATCTTCCCGC r.(?) p.(=)
-/. 1 c.-136_-135insCGCCATCTTCCCGC r.(?) p.(=)
-/. - c.-131_-130insTTCCCGCGCCTC r.(?) p.(=)
-/. 1 c.-68T>C r.(=) p.(=)
-/. - c.-2C>T r.(?) p.(=)
-/. - c.-2C>T r.(?) p.(=)
-/. 4 c.-2C>T r.(=) p.(=)
-/. 1 c.-2C>T r.(?) p.(=)
?/. 1_15 c.? r.(?) p.?
+/. - c.? r.(?) p.(Arg?Cys)
?/. 1_15 c.? r.(?) p.?
?/. 1_15 c.? r.(?) p.?
?/. 1_15 c.? r.(?) p.?
+/. 2 c.?delC r.(?) p.(?)
+?/. - c.2T>C r.(?) p.0?
+?/. - c.2T>C r.(?) p.0?
+/. - c.50T>C r.(?) p.(Leu17Pro)
+/. 1 c.50T>C r.(?) p.(Leu17Pro)
-/. - c.57T>C r.(?) p.(Leu19=)
-/. - c.57T>C r.(?) p.(Leu19=)
-/. 1 c.57T>C r.(=) p.(=)
-/. - c.57T>C r.(?) p.(Leu19=)
-/. 1 c.57T>C r.(?) p.(=)
-?/. - c.103A>G r.(?) p.(Ile35Val)
+/. 2 c.114del r.(?) p.(Glu39Serfs*10)
+/. 2 c.114del r.(?) p.(Glu39Serfs*10)
+/. 2 c.121C>T r.(?) p.(Gln41*)
+/. - c.121C>T r.(?) p.(Gln41Ter)
+/. 2 c.121del r.(?) p.(Gln41Argfs*8)
+/. - c.127C>T r.(?) p.(Arg43Ter)
+/. 2 c.127C>T r.(?) p.(Arg43*)
+/. 2 c.127C>T r.(?) p.(Arg43*)
+/. 2 c.138T>A r.(?) p.(Cys46*)
+/. - c.138T>A r.(?) p.(Cys46Ter)
+/. 2 c.138T>A r.(?) p.(Cys46*)
+/. - c.138T>A r.(?) p.Cys46*
+/. - c.138T>A r.(?) p.(Cys46Ter)
-/. - c.151C>G r.(?) p.(Gln51Glu)
-/. 2 c.151C>G r.(?) p.(Gln51Glu)
-?/. - c.151C>G r.(?) p.(Gln51Glu)
+/. - c.163C>T r.(?) p.(Gln55Ter)
+/. 2 c.163C>T r.(?) p.(Gln55*)
?/. - c.167G>A r.(?) p.(Arg56His)
-/. 2 c.180C>T r.(?) p.(=)
-/. - c.180C>T r.(?) p.(Tyr60=)
-/. 2 c.180C>T r.(?) p.(=)
?/. - c.181G>C r.(?) p.(Gly61Arg)
?/. - c.181G>C r.(?) p.(Gly61Arg)
?/. - c.181G>C r.(?) p.(Gly61Arg)
?/. 2 c.240T>A r.(?) p.(Ser80Arg)
+/. 2i_7i c.(246+1_247-1)_(1060+1_1061-1)del r.247_1060del p.Phe83Valfs*8
-/. - c.256+9G>A r.(=) p.(=)
-/. - c.256+9G>A r.(=) p.(=)
-/. 2i c.257-101G>C r.(?) p.(=)
-?/. - c.257-10G>C r.(=) p.(=)
?/. - c.277G>A r.(?) p.Asp93Asn
?/. - c.304G>T r.(?) p.(Ala102Ser)
+?/. - c.344C>T r.(?) p.(Thr115Met)
+?/. - c.344C>T r.(?) p.(Thr115Met)
-?/. - c.344C>T r.(?) p.(Thr115Met)
-/. - c.366C>T r.(?) p.(His122=)
+/. 3 c.388C>T r.(?) p.(Arg130*)
+/. 3 c.388C>T r.(?) p.(Arg130*)
+/. - c.388C>T r.(?) p.(Arg130Ter)
+/. 3 c.388C>T r.(?) p.(Arg130*)
+/. 3 c.388C>T r.(?) p.(Arg130*)
+/. 3 c.388C>T r.(?) p.(Arg130*)
+/. - c.439C>T r.(?) p.(Arg147*)
+/. 3 c.439C>T r.(?) p.(Arg147*)
+/. 3 c.439C>T r.(?) p.(Arg147*)
+/. - c.439C>T r.(?) p.(Arg147Ter)
?/. - c.440G>A r.(?) p.(Arg147Gln)
?/. - c.449+1G>C r.spl? p.?
-/. 3i c.450-72G>T r.(?) p.(=)
+/. - c.547+1G>A r.spl p.?
+?/. - c.547+1G>A r.spl? p.?
-?/. - c.548-20C>T r.(=) p.(=)
+/. 5 c.575T>C r.(?) p.(Leu192Pro)
+/. - c.575T>C r.(?) p.(Leu192Pro)
+/. - c.587A>G r.(?) p.(Gln196Arg)
+/. 5 c.587A>G r.(?) p.(Gln196Arg)
+/. - c.587A>G r.(?) p.(Gln196Arg)
-/. - c.602T>C r.(?) p.(Leu201Ser)
-/. - c.602T>C r.(?) p.(Leu201Ser)
-/. 5 c.602T>C r.(?) p.(Leu201Ser)
-/. - c.602T>C r.(?) p.(Leu201Ser)
-/. 5 c.602T>C r.(?) p.(Leu201Ser)
+/. - c.616C>T r.(?) p.(Gln206Ter)
+/. 5 c.616C>T r.(?) p.(Gln206*)
?/. - c.638A>G r.(?) p.(His213Arg)
+/. 5 c.638A>G r.(?) p.(His213Arg)
+/. 5 c.638A>G r.(?) p.(His213Arg)
+/. 5 c.647C>T r.(?) p.(Pro216Leu)
+/. - c.647C>T r.(?) p.(Pro216Leu)
+/. - c.661A>G r.(?) p.(Thr221Ala)
+/. 5 c.661A>G r.(?) p.(Thr221Ala)
+?/. - c.661del r.(?) p.(Thr221Profs*12)
+/. 5 c.661del r.(?) p.(Thr221Profs*12)
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