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: 3-87299067-T-C Allele Count: 3   Sample Count: 2562   MAF: 5.855E-4   CADD Score: 7.799

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
CHMP2B ENST00000263780 Tta/Cta 122L CCDS2918.1 synonymous - -
CHMP2B ENST00000471660 Tta/Cta 81L CCDS58840.1 synonymous - -
CHMP2B ENST00000494980 Tta/Cta 92L - synonymous - -
CHMP2B ENST00000472024 - - - noncoding exon - -
CHMP2B ENST00000466696 - - - upstream - -