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: 2-212251819-G-A Allele Count: 1   Sample Count: 2532   MAF: 1.975E-4   CADD Score: 3.147

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 ccC/ccT 1080P CCDS2394.1 synonymous - -
ERBB4 ENST00000402597 ccC/ccT 1070P - synonymous - -
ERBB4 ENST00000436443 ccC/ccT 1064P CCDS42811.1 synonymous - -