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: 2-212587164-G-A Allele Count: 2   Sample Count: 2614   MAF: 3.826E-4   CADD Score: 11.08

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 ttC/ttT 279F CCDS2394.1 synonymous - -
ERBB4 ENST00000260943 ttC/ttT 279F - synonymous - -
ERBB4 ENST00000402597 ttC/ttT 279F - synonymous - -
ERBB4 ENST00000436443 ttC/ttT 279F CCDS42811.1 synonymous - -
ERBB4 ENST00000484594 - - - noncoding exon - -
ERBB4 ENST00000484474 - - - downstream - -