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 2:127428587 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920596

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 17266

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

2:g.127428587G>A
ENST00000402125.2:c.351G>A
ENSP00000384225.2:p.Gly118Ser
ENST00000409048.1:c.1129G>A
ENSP00000386679.1:p.Gly377Ser
ENST00000234071.6:c.1027G>A
ENSP00000234071.3:p.Gly343Ser

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variation displays