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 2:127428374 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1006209 ; HGMD-PUBLIC CM910317

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17274

HGVS names

This variant has 10 HGVS names - Hide

2:g.127428374C>T
ENST00000402125.2:c.138C>T
ENSP00000384225.2:p.Arg47Cys
ENST00000409048.1:c.916C>T
ENSP00000386679.1:p.Arg306Cys
ENST00000234071.7:c.814C>T
ENSP00000234071.3:p.Arg272Cys
LRG_599:g.14955C>T
LRG_599t1:c.814C>T
LRG_599p1:p.Arg272Cys

About this variant

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

Variant displays