Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 2:127421397 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950981

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17267

HGVS names

This variant has 19 HGVS names - Hide

2:g.127421397A>C
ENST00000409048.1:c.185A>C
ENSP00000386679.1:p.Glu62Ala
ENST00000429925.5:c.185A>C
ENSP00000412697.1:p.Glu62Ala
ENST00000427769.5:c.185A>C
ENSP00000406295.1:p.Glu62Ala
ENST00000419985.5:c.150A>C
ENST00000419985.5:c.150A>C(p.=)
ENST00000474030.5:n.268A>C
ENST00000431364.1:c.150A>C
ENST00000431364.1:c.150A>C(p.=)
ENST00000234071.7:c.185A>C
ENSP00000234071.3:p.Glu62Ala
ENST00000442644.5:c.185A>C
ENSP00000411241.1:p.Glu62Ala
LRG_599:g.7978A>C
LRG_599t1:c.185A>C
LRG_599p1:p.Glu62Ala

About this variant

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

Variant displays