Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
A/G | Ancestral: A | Ambiguity code: R | MAF: 0.39 (G)
Location

Chromosome 2:233274722 (forward strand) | View in location tab

Co-located

with COSMIC COSM3758033 (A/G) ; HGMD-PUBLIC CM070026

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 20 HGVS names - click the plus to show

2:g.233274722A>G
ENST00000474148.4:n.1693A>G
ENST00000479942.4:n.1044A>G
ENST00000373525.8:c.466A>G
ENSP00000362625.5:p.Thr156Ala
ENST00000392017.7:c.898A>G
ENSP00000375872.4:p.Thr300Ala
ENST00000444735.4:c.517A>G
ENSP00000409215.1:p.Thr173Ala
ENST00000392021.6:c.*779A>G
ENST00000498620.4:n.405A>G
ENST00000492298.4:n.419A>G
ENST00000347464.8:c.409A>G
ENSP00000318259.6:p.Thr137Ala
ENST00000419681.4:c.409A>G
ENSP00000398773.1:p.Thr137Ala
ENST00000392020.7:c.841A>G
ENSP00000375875.4:p.Thr281Ala
ENST00000392018.1:c.949A>G
ENSP00000375873.1:p.Thr317Ala

This variation has assays on 12 chips - click the plus to show

About this variant

This variant overlaps 16 transcripts, has 2671 individual genotypes, is associated with 7 phenotypes and is mentioned in 147 citations.

Variation displays