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

This variation has assays on 11 chips - click the plus to show

Variation displays