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: 2-212537906-G-A Allele Count: 1   Sample Count: 2620   MAF: 1.908E-4   CADD Score: 18.74

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 Ctc/Ttc L567F CCDS2394.1 missense benign(0.092) tolerated(0.09)
ERBB4 ENST00000260943 Ctc/Ttc L567F - missense benign(0.307) tolerated(0.06)
ERBB4 ENST00000402597 Ctc/Ttc L567F - missense benign(0.143) tolerated(0.09)
ERBB4 ENST00000436443 Ctc/Ttc L567F CCDS42811.1 missense benign(0.111) tolerated(0.09)
ERBB4 ENST00000484594 - - - noncoding exon - -