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: 2-212587119-T-C Allele Count: 38   Sample Count: 2607   MAF: 0.0073   CADD Score: 12.23

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 ccA/ccG 294P CCDS2394.1 synonymous; splice region - -
ERBB4 ENST00000260943 ccA/ccG 294P - synonymous; splice region - -
ERBB4 ENST00000402597 ccA/ccG 294P - synonymous; splice region - -
ERBB4 ENST00000436443 ccA/ccG 294P CCDS42811.1 synonymous; splice region - -
ERBB4 ENST00000484594 - - - splice region - -
ERBB4 ENST00000484474 - - - downstream - -