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: 2-212488657-G-A Allele Count: 1   Sample Count: 2635   MAF: 1.898E-4   CADD Score: 31.0

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
ERBB4 ENST00000342788 aCg/aTg T731M CCDS2394.1 missense probably_damaging(0.96) deleterious(0.03)
ERBB4 ENST00000260943 aCg/aTg T721M - missense benign(0.221) deleterious(0.02)
ERBB4 ENST00000402597 aCg/aTg T721M - missense possibly_damaging(0.81) deleterious(0.02)
ERBB4 ENST00000436443 aCg/aTg T731M CCDS42811.1 missense possibly_damaging(0.87) deleterious(0.02)
ERBB4 ENST00000484594 - - - noncoding exon - -