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: 2-212537936-G-A Allele Count: 1   Sample Count: 2615   MAF: 1.912E-4   CADD Score: 13.67

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 Ccc/Tcc P557S CCDS2394.1 missense benign(0.003) tolerated(0.24)
ERBB4 ENST00000260943 Ccc/Tcc P557S - missense benign(0.001) tolerated(0.25)
ERBB4 ENST00000402597 Ccc/Tcc P557S - missense benign(0.006) tolerated(0.24)
ERBB4 ENST00000436443 Ccc/Tcc P557S CCDS42811.1 missense benign(0.081) tolerated(0.23)
ERBB4 ENST00000484594 - - - noncoding exon - -