Transcript #00025509 (NM_212533.2, ABCA2 gene)

Transcript name transcript variant 2
Gene name ABCA2 (ATP-binding cassette, sub-family A (ABC1), member 2)
Chromosome 9
Transcript - NCBI ID NM_212533.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_997698.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

21 entries on 1 page. Showing entries 1 - 21.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-2275C>T r.(?) p.(=)
-?/. - c.-1897T>C r.(?) p.(=)
+?/. - c.740dup r.(?) p.(Gly248Argfs*38)
?/. - c.768+6G>A r.(=) p.(=)
-?/. - c.792C>T r.(?) p.(Leu264=)
+?/. - c.1027C>T r.(?) p.(Gln343*)
-?/. - c.1410G>A r.(?) p.(Thr470=)
?/. - c.1645-8A>G r.(=) p.(=)
-?/. - c.3504C>T r.(?) p.(Phe1168=)
-?/. - c.3840C>T r.(?) p.(Ser1280=)
-?/. - c.4584C>T r.(?) p.(Tyr1528=)
-?/. - c.4719C>T r.(?) p.(Cys1573=)
?/. - c.5224G>A r.(?) p.(Gly1742Ser)
?/. - c.5224G>A r.(?) p.(Gly1742Ser)
-?/. - c.5233G>T r.(?) p.(Ala1745Ser)
?/. - c.5956C>T r.(?) p.(His1986Tyr)
?/. - c.6043G>A r.(?) p.(Glu2015Lys)
-?/. - c.6080C>T r.(?) p.(Ala2027Val)
?/. - c.6169C>G r.(?) p.(Pro2057Ala)
-?/. - c.7011C>G r.(?) p.(Ala2337=)
?/. - c.7265G>A r.(?) p.(Arg2422Gln)
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