Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 2:127428602 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM870018

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 17259

HGVS names

This variant has 10 HGVS names - Hide

2:g.127428602C>T
ENST00000402125.2:c.366C>T
ENSP00000384225.2:p.Arg123Ter
ENST00000409048.1:c.1144C>T
ENSP00000386679.1:p.Arg382Ter
ENST00000234071.7:c.1042C>T
ENSP00000234071.3:p.Arg348Ter
LRG_599:g.15183C>T
LRG_599t1:c.1042C>T
LRG_599p1:p.Arg348Ter

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays