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: 3-87294912-A-G Allele Count: 1   Sample Count: 2528   MAF: 1.978E-4   CADD Score: 19.7

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
CHMP2B ENST00000263780 Aaa/Gaa K59E CCDS2918.1 missense benign(0.078) tolerated(0.12)
CHMP2B ENST00000471660 Aaa/Gaa K18E CCDS58840.1 missense benign(0.194) tolerated(0.14)
CHMP2B ENST00000494980 Aaa/Gaa K59E - missense benign(0.044) tolerated(0.06)
CHMP2B ENST00000472024 - - - noncoding exon - -