Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 2:127428895 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910320

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17279

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

2:g.127428895C>G
ENST00000402125.2:c.659C>G
ENSP00000384225.2:p.Ile220Met
ENST00000409048.1:c.1437C>G
ENSP00000386679.1:p.Ile479Met
ENST00000234071.7:c.1335C>G
ENSP00000234071.3:p.Ile445Met

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays