Original source

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

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

Chromosome 2:98396839 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980381

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_019_CNGA3_600053_0004, 8879

This variant has 9 HGVS names - click the plus to show

2:g.98396839G>A
ENST00000409937.1:c.1681G>A
ENSP00000386761.1:p.Gly561Arg
ENST00000393504.5:c.1669G>A
ENSP00000377140.1:p.Gly557Arg
ENST00000436404.6:c.1615G>A
ENSP00000410070.2:p.Gly539Arg
ENST00000272602.6:c.1669G>A
ENSP00000272602.2:p.Gly557Arg

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts and is associated with 3 phenotypes.

Variant displays