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 2:98396018 (forward strand) | View in location tab

Co-located

with COSMIC COSM1580002 (G/A) ; HGMD-PUBLIC CM980375

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 8878, 2010_April_001_018_CNGA3_600053_0003

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

2:g.98396018G>A
ENST00000409937.1:c.860G>A
ENSP00000386761.1:p.Arg287Gln
ENST00000436404.4:c.794G>A
ENSP00000410070.2:p.Arg265Gln
ENST00000393504.3:c.848G>A
ENSP00000377140.1:p.Arg283Gln
ENST00000272602.4:c.848G>A
ENSP00000272602.2:p.Arg283Gln

Genotyping chips

This variation has assays on: HumanCoreExome-12

Variation displays