Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.17 (T)

Chromosome 2:218384290 (forward strand) | View in location tab


with COSMIC COSM3757953 (C/T) ; HGMD-PUBLIC CM057841

Most severe consequence
Missense variant
Evidence status


This variant has 16 HGVS names - click the plus to show

This variant has assays on 7 chips - click the plus to show

About this variant

This variant overlaps 15 transcripts, has 3784 sample genotypes and is mentioned in 6 citations.

Variant displays