Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A

Note This screen lists all Ensembl-based annotations for the selected variant. This includes annotations with overlapping genes.

Variant: 2-212570063-C-T Allele Count: 1   Sample Count: 2638   MAF: 1.895E-4   CADD Score: 24.5

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 cGg/cAg R393Q CCDS2394.1 missense benign(0.008) tolerated(0.12)
ERBB4 ENST00000260943 cGg/cAg R393Q - missense benign(0.006) tolerated(0.11)
ERBB4 ENST00000402597 cGg/cAg R393Q - missense benign(0.007) tolerated(0.11)
ERBB4 ENST00000436443 cGg/cAg R393Q CCDS42811.1 missense benign(0.006) tolerated(0.12)
ERBB4 ENST00000484594 - - - noncoding exon - -