Canonical Allele Identifier: CA4413073
Community Standard Title: NM_001126340.3(ORAI2):c.659G>A (p.Arg220His)
Gene: ORAI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.102446946G>A , CM000669.2:g.102446946G>A GRCh38
NC_000007.13:g.102087393G>A , CM000669.1:g.102087393G>A GRCh37
NC_000007.12:g.101874398G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001126340.3:c.659G>A MANE Select NP_001119812.1:p.Arg220His
ENST00000495936.7:c.659G>A MANE Select ENSP00000420178.2:p.Arg220His
NM_001126340.2:c.659G>A NP_001119812.1:p.Arg220His
NM_001271818.1:c.659G>A NP_001258747.1:p.Arg220His
NM_001271818.2:c.659G>A NP_001258747.1:p.Arg220His
NM_001271819.1:c.428G>A NP_001258748.1:p.Arg143His
NM_001271819.2:c.428G>A NP_001258748.1:p.Arg143His
NM_032831.3:c.659G>A NP_116220.1:p.Arg220His
NM_032831.4:c.659G>A NP_116220.1:p.Arg220His
ENST00000356387.6:c.659G>A ENSP00000348752.2:p.Arg220His
ENST00000403646.7:c.659G>A ENSP00000385489.3:p.Arg220His
ENST00000403646.8:c.659G>A ENSP00000385489.3:p.Arg220His
ENST00000473939.1:c.659G>A ENSP00000417928.1:p.Arg220His
ENST00000473939.2:c.659G>A ENSP00000417928.1:p.Arg220His
ENST00000478730.6:c.659G>A ENSP00000418140.1:p.Arg220His
ENST00000478730.7:c.659G>A ENSP00000418140.1:p.Arg220His
ENST00000488996.1:n.656G>A
ENST00000495936.5:c.659G>A ENSP00000420178.1:p.Arg220His
ENST00000495936.6:c.659G>A ENSP00000420178.1:p.Arg220His
ENST00000498661.6:c.659G>A ENSP00000418464.2:p.Arg220His
ENST00000611770.4:c.659G>A ENSP00000478113.1:p.Arg220His
ENST00000611770.5:c.659G>A ENSP00000478113.1:p.Arg220His