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: 2-212293178-T-C Allele Count: 1   Sample Count: 2565   MAF: 1.949E-4   CADD Score: 23.4

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 Ata/Gta I892V CCDS2394.1 missense probably_damaging(0.935) deleterious(0)
ERBB4 ENST00000402597 Ata/Gta I882V - missense possibly_damaging(0.893) deleterious(0)
ERBB4 ENST00000436443 Ata/Gta I892V CCDS42811.1 missense probably_damaging(0.943) tolerated(0.05)