Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.05 (A)
Location

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

Co-located

with HGMD-PUBLIC CM930722

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

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

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

This variation has assays on 11 chips - click the plus to show

Variation displays