Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variant

HGMD-PUBLIC CM910320

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17279

HGVS names

This variant has 10 HGVS names - Hide

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
LRG_599:g.15476C>G
LRG_599t1:c.1335C>G
LRG_599p1:p.Ile445Met

About this variant

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

Variant displays