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: 2-212570071-G-A Allele Count: 6   Sample Count: 2638   MAF: 0.0011   CADD Score: 12.92

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 aaC/aaT 390N CCDS2394.1 synonymous - -
ERBB4 ENST00000260943 aaC/aaT 390N - synonymous - -
ERBB4 ENST00000402597 aaC/aaT 390N - synonymous - -
ERBB4 ENST00000436443 aaC/aaT 390N CCDS42811.1 synonymous - -
ERBB4 ENST00000484594 - - - noncoding exon - -