Transcript #00010182

Transcript name integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
Gene name ITGA2 (integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor))
Chromosome 5
Transcript - NCBI ID NM_002203.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002194.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.630+10A>G benign r.(=) p.(=)
-/. - c.759C>T benign r.(?) p.(=)
-/. - c.825G>A benign r.(?) p.(=)
-/. - c.1312+12T>C benign r.(=) p.(=)
-/. - c.1602+15del benign r.(=) p.(=)
-?/. - c.2084-9_2084-8dup likely benign r.(=) p.(=)
-?/. - c.2236-10G>A likely benign r.(=) p.(=)
-?/. - c.2742-4A>G likely benign r.spl? p.?
+/. - c.2742-2A>G pathogenic r.spl? p.?
?/. - c.2742-2A>G VUS r.spl? p.?
-?/. - c.3040-19G>A likely benign r.(=) p.(=)
-/. - c.3252C>T benign r.(?) p.(=)
./. - c.3385G>A - r.(?) p.(Glu1129Lys)
?/. - c.3425_3426insT VUS r.(?) p.(Ile1143Asnfs*22)
-?/. - c.*8010T>C likely benign r.(=) p.(=)
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