Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 2:128183784 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910314, CM951008

Most severe consequence
Clinical significance

Synonyms

LSDB 17272

This variation has 11 HGVS names - click the plus to show

2:g.128183784G>A
ENST00000409048.1:c.761G>A
ENSP00000386679.1:p.Arg254Gln
ENST00000402125.2:c.121-2149G>A
ENST00000464089.1:n.245G>A
ENST00000453608.2:c.824G>A
ENSP00000404030.2:p.Arg275Gln
ENST00000422777.3:c.659G>A
ENSP00000409543.3:p.Arg220Gln
ENST00000234071.3:c.659G>A
ENSP00000234071.3:p.Arg220Gln

Variation displays