Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 2:210591893 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012351

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

2:g.210591893A>G
ENST00000619804.1:c.1010A>G
ENSP00000480517.1:p.His337Arg
ENST00000430249.6:c.1028A>G
ENSP00000402608.2:p.His343Arg
ENST00000233072.9:c.1010A>G
ENSP00000233072.5:p.His337Arg
LRG_336:g.119209A>G
LRG_336t1:c.1010A>G
LRG_336p1:p.His337Arg

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays