Transcript #00001868 (NM_000392.3, ABCC2 gene)

Transcript name ATP-binding cassette, sub-family C (CFTR/MRP), member 2
Gene name ABCC2 (ATP-binding cassette, sub-family C (CFTR/MRP), member 2)
Chromosome 10
Transcript - NCBI ID NM_000392.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000383.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

50 entries on 1 page. Showing entries 1 - 50.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.116= r.(=) p.(Phe39=)
-?/. - c.159A>G r.(?) p.(Lys53=)
-?/. - c.159A>G r.(?) p.(Lys53=)
+/. - c.298C>T r.(?) p.(Arg100*)
?/. - c.842G>A r.(?) p.(Ser281Asn)
?/. - c.842G>A r.(?) p.(Ser281Asn)
-?/. - c.842G>A r.(?) p.(Ser281Asn)
-?/. - c.1058G>A r.(?) p.(Arg353His)
-/. - c.1219C>T r.(?) p.(Leu407=)
-/. - c.1249G>A r.(?) p.(Val417Ile)
-?/. - c.1446C>G r.(=) p.(=)
-/. - c.1483A>G r.(?) p.(Lys495Glu)
?/. - c.1483A>G r.(?) p.(Lys495Glu)
+/. - c.1815+2T>A r.spl p.?
-?/. - c.1860T>A r.(?) p.(Asp620Glu)
+?/. 19 c.1967+1G>A r.spl p.?
+/. - c.1967+2T>C r.spl p.?
+/. - c.2302C>T r.(?) p.(Arg768Trp)
+/. - c.2302C>T r.(?) p.(Arg768Trp)
+/. - c.2302C>T r.(?) p.(Arg768Trp)
+/. - c.2302C>T r.(?) p.(Arg768Trp)
?/. - c.2369C>T r.(?) p.(Ala790Val)
?/. - c.2408T>C r.(?) p.(Val803Ala)
+/. - c.2439+2T>C r.spl p.?
-?/. - c.2440-11T>C r.= p.=
+?/. - c.2443C>T r.(?) p.(Arg815*)
-?/. - c.2461A>G r.(?) p.(Ser821Gly)
-?/. - c.2546T>G r.(?) p.(Leu849Arg)
?/. 20 c.2714G>T r.(?) p.(Arg905Ile)
?/. 20 c.2714G>T r.(?) p.(Arg905Ile)
?/. 20 c.2714G>T r.(?) p.(Arg905Ile)
?/. 20 c.2714G>T r.(?) p.(Arg905Ile)
+?/. - c.2882A>G r.spl p.?
+/. - c.2901C>A r.(?) p.(Tyr967*)
-?/. - c.3114G>A r.(?) p.(Val1038=)
./. - c.3196C>T r.(?) p.(Arg1066*)
+?/. - c.3196C>T r.(?) p.(Arg1066*)
?/. - c.3236G>A r.(?) p.(Arg1079Gln)
?/. - c.3236G>A r.(?) p.(Arg1079Gln)
+/. - c.3258+1G>A r.spl? p.?
+/. 23i c.3258+1G>A r.3104_3258del p.Ile1036Tyrfs*6
+?/. - c.3298C>A r.(?) p.(Arg1100Ser)
+/. - c.3315C>A r.(?) p.(Cys1105Ter)
+/. - c.3449G>A r.(?) p.(Arg1150His)
-?/. - c.3542G>T r.(?) p.(Arg1181Leu)
?/. - c.3547C>A r.(?) p.(Leu1183Met)
-/. - c.3972C>T r.(?) p.(Ile1324=)
-?/. - c.4527C>T r.(?) p.(Asn1509=)
-?/. - c.4544G>A r.(?) p.(Cys1515Tyr)
-?/. - c.4544G>A r.(?) p.(Cys1515Tyr)
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