Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | 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
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_019_CNGA3_600053_0004, 8879

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

2:g.98396839G>A
ENST00000409937.1:c.1681G>A
ENSP00000386761.1:p.Gly561Arg
ENST00000393504.2:c.1669G>A
ENSP00000377140.1:p.Gly557Arg
ENST00000436404.3:c.1615G>A
ENSP00000410070.2:p.Gly539Arg
ENST00000272602.3:c.1669G>A
ENSP00000272602.2:p.Gly557Arg

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays