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 2:127428575 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM951019

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17280

HGVS names

This variant has 10 HGVS names - Hide

2:g.127428575G>A
ENST00000409048.1:c.1117G>A
ENSP00000386679.1:p.Val373Met
ENST00000402125.2:c.339G>A
ENSP00000384225.2:p.Val114Met
ENST00000234071.7:c.1015G>A
ENSP00000234071.3:p.Val339Met
LRG_599:g.15156G>A
LRG_599t1:c.1015G>A
LRG_599p1:p.Val339Met

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays