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: 2-212495202-T-C Allele Count: 1   Sample Count: 2628   MAF: 1.903E-4   CADD Score: 8.802

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 agA/agG 688R CCDS2394.1 synonymous - -
ERBB4 ENST00000260943 agA/agG 678R - synonymous - -
ERBB4 ENST00000402597 agA/agG 678R - synonymous - -
ERBB4 ENST00000436443 agA/agG 688R CCDS42811.1 synonymous - -
ERBB4 ENST00000484594 - - - noncoding exon - -