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: 2-212285243-C-T Allele Count: 1   Sample Count: 2600   MAF: 1.923E-4   CADD Score: 24.8

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 Gag/Aag E1020K CCDS2394.1 missense benign(0.106) tolerated(0.08)
ERBB4 ENST00000402597 Gag/Aag E1010K - missense possibly_damaging(0.853) tolerated(0.07)
ERBB4 ENST00000436443 Gag/Aag E1020K CCDS42811.1 missense possibly_damaging(0.784) tolerated(0.07)