Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R | MAF: 0.01 (G)
Location

Chromosome 2:113235496 (forward strand) | View in location tab

Co-located

with COSMIC COSM714693 (A/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

2:g.113235496A>G
ENST00000263334.9:c.985T>C
ENSP00000263334.6:p.Phe329Leu
ENST00000554352.1:n.416T>C
ENST00000429538.7:c.985T>C
ENSP00000395498.3:p.Phe329Leu
ENST00000263335.11:c.777+6055T>C
ENST00000485840.1:n.995T>C
ENST00000397647.7:c.777+6055T>C
ENST00000456685.5:n.483-2594A>G
ENST00000497038.6:c.-111T>C
ENST00000468980.3:c.254+1105T>C
ENST00000348715.9:c.906T>C
ENST00000623306.3:n.72A>G

This variant has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 26 transcripts, 1 regulatory feature, has 2532 sample genotypes and is associated with 2 phenotypes.

Variant displays