Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 2:127428485 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920595

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17265

This variant has 7 HGVS names - click the plus to show

2:g.127428485G>A
ENST00000402125.2:c.249G>A
ENSP00000384225.2:p.Ala84Thr
ENST00000409048.1:c.1027G>A
ENSP00000386679.1:p.Ala343Thr
ENST00000234071.7:c.925G>A
ENSP00000234071.3:p.Ala309Thr

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays