Original source

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

Alleles
C/A/T | Ancestral: C | Ambiguity code: H | MAF: < 0.01 (A)
Location

Chromosome 2:233760973 (forward strand) | View in location tab

Co-located

with COSMIC COSM383294 (C/A), COSM4001563 (C/A) ; HGMD-PUBLIC CM951260

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 6 synonyms - click the plus to show

This variant has 46 HGVS names - click the plus to show

Variant allele A
2:g.233760973C>A
ENST00000373445.1:c.856-6061C>A
ENST00000373409.7:c.868-6061C>A
ENST00000305139.10:c.862-6061C>A
ENST00000482026.5:c.868-6061C>A
ENST00000373424.5:c.61-6061C>A
ENST00000446481.6:c.61-6061C>A
ENST00000373426.3:c.856-6061C>A
ENST00000450233.1:c.868-6061C>A
ENST00000360418.4:c.686C>A
ENSP00000353593.3:p.Pro229Gln
ENST00000609767.2:c.868-6061C>A
ENST00000373414.3:c.868-6061C>A
ENST00000305208.9:c.686C>A
ENSP00000304845.5:p.Pro229Gln
ENST00000406651.1:c.61-6061C>A
ENST00000344644.9:c.856-6061C>A
ENST00000373450.4:c.856-6061C>A
ENST00000354728.4:c.856-6061C>A
ENST00000484784.2:c.*238-6061C>A
LRG_733:g.5701C>A
LRG_733t1:c.686C>A
LRG_733p1:p.Pro229Gln

Variant allele T
2:g.233760973C>T
ENST00000373445.1:c.856-6061C>T
ENST00000373409.7:c.868-6061C>T
ENST00000305139.10:c.862-6061C>T
ENST00000482026.5:c.868-6061C>T
ENST00000373424.5:c.61-6061C>T
ENST00000446481.6:c.61-6061C>T
ENST00000373426.3:c.856-6061C>T
ENST00000450233.1:c.868-6061C>T
ENST00000360418.4:c.686C>T
ENSP00000353593.3:p.Pro229Leu
ENST00000609767.2:c.868-6061C>T
ENST00000373414.3:c.868-6061C>T
ENST00000305208.9:c.686C>T
ENSP00000304845.5:p.Pro229Leu
ENST00000406651.1:c.61-6061C>T
ENST00000344644.9:c.856-6061C>T
ENST00000373450.4:c.856-6061C>T
ENST00000354728.4:c.856-6061C>T
ENST00000484784.2:c.*238-6061C>T
LRG_733:g.5701C>T
LRG_733t1:c.686C>T
LRG_733p1:p.Pro229Leu

This variant has assays on 6 chips - click the plus to show

About this variant

This variant overlaps 38 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 6 phenotypes and is mentioned in 3 citations.

Variant displays