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

Co-located

with HGMD-PUBLIC CM951019

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17280

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

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

About this variant

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

Variant displays