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 2:26482441 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM024258

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

2:g.26482441A>G
ENST00000403946.7:c.1544T>C
ENSP00000385255.3:p.Ile515Thr
ENST00000272371.6:c.1544T>C
ENSP00000272371.2:p.Ile515Thr

About this variant

This variant overlaps 5 transcripts, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays