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
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

2:g.113235496A>G
ENST00000263334.8:c.985T>C
ENSP00000263334.6:p.Phe329Leu
ENST00000554352.1:n.416T>C
ENST00000429538.6:c.985T>C
ENSP00000395498.3:p.Phe329Leu
ENST00000263335.10:c.777+6055T>C
ENST00000485840.1:n.995T>C
ENST00000397647.6:c.777+6055T>C
ENST00000456685.4:n.483-2594A>G
ENST00000497038.5:c.-111T>C
ENST00000468980.3:c.254+1105T>C
ENST00000348715.8:c.906T>C
ENST00000623306.2:n.72A>G

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

About this variant

This variant overlaps 27 transcripts, has 2532 individual genotypes and is associated with 2 phenotypes.

Variation displays