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 2:127426227 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM941184, CS951513, CS930862

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17277

HGVS names

This variant has 10 HGVS names - Hide

2:g.127426227G>C
ENST00000402125.2:c.121-2130G>C
ENST00000409048.1:c.780G>C
ENSP00000386679.1:p.Gln260His
ENST00000464089.1:n.264G>C
ENST00000234071.7:c.678G>C
ENSP00000234071.3:p.Gln226His
LRG_599:g.12808G>C
LRG_599t1:c.678G>C
LRG_599p1:p.Gln226His

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Variant displays