Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 2:240871391 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1244655 ; HGMD-PUBLIC HM971433

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000030.2:c.466G>A, 12574

HGVS names

This variant has 5 HGVS names - Hide

2:g.240871391G>A
ENST00000476698.1:n.203G>A
ENST00000472436.1:n.486G>A
ENST00000307503.3:c.466G>A
ENSP00000302620.3:p.Gly156Arg

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays