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: 2-212295822-T-G Allele Count: 1   Sample Count: 2609   MAF: 1.916E-4   CADD Score: 23.1

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 Atg/Ctg M831L CCDS2394.1 missense possibly_damaging(0.66) tolerated(0.08)
ERBB4 ENST00000402597 Atg/Ctg M821L - missense benign(0.41) tolerated(0.08)
ERBB4 ENST00000436443 Atg/Ctg M831L CCDS42811.1 missense possibly_damaging(0.691) tolerated(0.12)