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: 2-212288901-C-T Allele Count: 2   Sample Count: 2597   MAF: 3.851E-4   CADD Score: 26.4

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 Gtt/Att V949I CCDS2394.1 missense possibly_damaging(0.564) deleterious(0.05)
ERBB4 ENST00000402597 Gtt/Att V939I - missense benign(0.184) deleterious(0.05)
ERBB4 ENST00000436443 Gtt/Att V949I CCDS42811.1 missense possibly_damaging(0.659) deleterious(0.05)