Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 2:127428892 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM870019

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17260

HGVS names

This variant has 10 HGVS names - Hide

2:g.127428892G>C
ENST00000409048.1:c.1434G>C
ENSP00000386679.1:p.Trp478Cys
ENST00000402125.2:c.656G>C
ENSP00000384225.2:p.Trp219Cys
ENST00000234071.7:c.1332G>C
ENSP00000234071.3:p.Trp444Cys
LRG_599:g.15473G>C
LRG_599t1:c.1332G>C
LRG_599p1:p.Trp444Cys

About this variant

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

Variant displays