Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 2:97737828 (forward strand) | View in location tab

Co-located
Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_137_ZAP70_176947_0003, 5039

This variant has 12 HGVS names - click the plus to show

2:g.97737828C>A
ENST00000487283.5:n.2606C>A
ENST00000495754.1:n.492C>A
ENST00000451498.2:c.633C>A
ENSP00000400475.2:p.Ser211Arg
ENST00000463643.5:n.1415C>A
ENST00000489250.1:n.7C>A
ENST00000264972.9:c.1554C>A
ENSP00000264972.5:p.Ser518Arg
LRG_126:g.29261C>A
LRG_126t1:c.1554C>A
LRG_126p1:p.Ser518Arg

About this variant

This variant overlaps 9 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays