Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.03 (A)
Location

Chromosome 2:233760498 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930722

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 7 synonyms - click the plus to show

This variant has 23 HGVS names - click the plus to show

2:g.233760498G>A
ENST00000373445.1:c.856-6536G>A
ENST00000305139.10:c.862-6536G>A
ENST00000373409.7:c.868-6536G>A
ENST00000482026.5:c.868-6536G>A
ENST00000373424.5:c.61-6536G>A
ENST00000446481.6:c.61-6536G>A
ENST00000373426.3:c.856-6536G>A
ENST00000450233.1:c.868-6536G>A
ENST00000360418.4:c.211G>A
ENSP00000353593.3:p.Gly71Arg
ENST00000609767.2:c.868-6536G>A
ENST00000373414.3:c.868-6536G>A
ENST00000406651.1:c.61-6536G>A
ENST00000305208.9:c.211G>A
ENSP00000304845.5:p.Gly71Arg
ENST00000373450.4:c.856-6536G>A
ENST00000344644.9:c.856-6536G>A
ENST00000354728.4:c.856-6536G>A
ENST00000484784.2:c.*238-6536G>A
LRG_733:g.5226G>A
LRG_733t1:c.211G>A
LRG_733p1:p.Gly71Arg

This variant has assays on 12 chips - click the plus to show

About this variant

This variant overlaps 19 transcripts, has 3734 sample genotypes, is associated with 9 phenotypes and is mentioned in 20 citations.

Variant displays