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 2:127426208 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951008, CM910314

Most severe consequence
Clinical significance

Synonyms

LSDB 17272

This variation has 7 HGVS names - click the plus to show

2:g.127426208G>A
ENST00000409048.1:c.761G>A
ENSP00000386679.1:p.Arg254Gln
ENST00000402125.2:c.121-2149G>A
ENST00000464089.1:n.245G>A
ENST00000234071.4:c.659G>A
ENSP00000234071.3:p.Arg220Gln

Variation displays