Transcript #00001177 (NM_000211.3, ITGB2 gene)

Transcript name transcript variant 1
Gene name ITGB2 (integrin, beta 2 (complement component 3 receptor 3 and 4 subunit))
Chromosome 21
Transcript - NCBI ID NM_000211.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000202.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-111T>C r.(?) p.(=)
?/. - c.-3-4701G>A r.(=) p.(=)
-?/. - c.33G>C r.(?) p.(Leu11=)
-?/. - c.58+9T>C r.(=) p.(=)
-/. - c.58+12G>A r.(=) p.(=)
-?/. - c.92G>A r.(?) p.(Ser31Asn)
-?/. - c.147+5G>A r.spl? p.?
-?/. - c.147+9C>T r.(=) p.(=)
-/. - c.148-1089A>G r.(=) p.(=)
-?/. - c.162G>A r.(?) p.(Pro54=)
-?/. - c.162G>A r.(?) p.(Pro54=)
?/. - c.182G>A r.(?) p.(Arg61His)
-?/. - c.228C>T r.(?) p.(Asp76=)
-?/. - c.329-6C>T r.(=) p.(=)
?/. - c.358C>T r.(?) p.(Arg120Trp)
?/. - c.493C>T r.(?) p.(Arg165Cys)
-?/. - c.525C>T r.(?) p.(Thr175=)
-?/. - c.546G>A r.(?) p.(Thr182=)
-?/. - c.591G>C r.(?) p.(Glu197Asp)
?/. - c.602C>T r.(?) p.(Pro201Leu)
-?/. - c.732C>T r.(?) p.(Ala244=)
?/. - c.757C>A r.(?) p.(Arg253Ser)
+/. - c.817G>A r.(?) p.(Gly273Arg)
-/. - c.819G>A r.(?) p.(Gly273=)
-?/. - c.828C>T r.(?) p.(Gly276=)
?/. - c.829G>A r.(?) p.(Ala277Thr)
+/. - c.994-1G>A r.spl? p.?
-/. - c.1002C>T r.(?) p.(Thr334=)
+/? 9 c.1037_1044delinsT r.(?) p.(Ser346Phefs*31)
-/. - c.1062A>T r.(?) p.(Gln354His)
-/. - c.1062A>T r.(?) p.(Gln354His)
-/. - c.1101C>A r.(?) p.(Val367=)
-/. - c.1323T>C r.(?) p.(Val441=)
-/. - c.1323T>C r.(?) p.(Val441=)
./. - c.1323T>G r.(=) p.(=)
-?/. - c.1344G>A r.(?) p.(Arg448=)
-?/. - c.1358G>A r.(?) p.(Ser453Asn)
-?/. - c.1413-8G>A r.(=) p.(=)
?/. - c.1600T>C r.(?) p.(Cys534Arg)
-?/. - c.1635C>T r.(?) p.(Asn545=)
-?/. - c.1635C>T r.(?) p.(Asn545=)
-?/. - c.1658-19G>A r.(=) p.(=)
-/. - c.1756C>T r.(?) p.(Arg586Trp)
-?/. - c.1756C>T r.(?) p.(Arg586Trp)
?/. - c.1756C>T r.(?) p.(Arg586Trp)
-?/. - c.1798G>A r.(?) p.(Val600Ile)
-?/. - c.1888G>A r.(?) p.(Glu630Lys)
-?/. - c.1969G>A r.(?) p.(Val657Met)
?/. - c.2050C>T r.(?) p.(Arg684Cys)
-/. - c.2058C>G r.(?) p.(Leu686=)
-?/. - c.2172G>A r.(?) p.(Lys724=)
-?/. - c.2280G>A r.(?) p.(Thr760=)
Legend   How to query