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: 2-212652804-G-A Allele Count: 1   Sample Count: 2509   MAF: 1.993E-4   CADD Score: 34.0

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 Cgg/Tgg R168W CCDS2394.1 missense possibly_damaging(0.876) deleterious(0.01)
ERBB4 ENST00000260943 Cgg/Tgg R168W - missense probably_damaging(0.946) deleterious(0.01)
ERBB4 ENST00000402597 Cgg/Tgg R168W - missense possibly_damaging(0.809) deleterious(0.01)
ERBB4 ENST00000435846 Cgg/Tgg R109W - missense possibly_damaging(0.876) deleterious(0.01)
ERBB4 ENST00000436443 Cgg/Tgg R168W CCDS42811.1 missense possibly_damaging(0.894) deleterious(0.01)
ERBB4 ENST00000484474 - - - noncoding exon - -
ERBB4 ENST00000484594 - - - noncoding exon - -