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: 2-212248444-G-A Allele Count: 1   Sample Count: 2522   MAF: 1.983E-4   CADD Score: 33.0

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 Cgg/Tgg R1275W CCDS2394.1 missense possibly_damaging(0.541) deleterious(0.02)
ERBB4 ENST00000402597 Cgg/Tgg R1265W - missense possibly_damaging(0.848) deleterious(0.02)
ERBB4 ENST00000436443 Cgg/Tgg R1259W CCDS42811.1 missense possibly_damaging(0.885) deleterious(0.02)