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: 3-87294878-GA-G Allele Count: 1   Sample Count: 2516   MAF: 1.987E-4   CADD Score: -

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
CHMP2B ENST00000263780 - 48 CCDS2918.1 frameshift - -
CHMP2B ENST00000471660 - 7 CCDS58840.1 frameshift - -
CHMP2B ENST00000494980 - 48 - frameshift - -
CHMP2B ENST00000472024 - - - noncoding exon - -