Canonical Allele Identifier: CA5397312

Gene: IL2RA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.6018090C>T , CM000672.2:g.6018090C>T	GRCh38
NC_000010.10:g.6060053C>T , CM000672.1:g.6060053C>T	GRCh37
NC_000010.9:g.6100059C>T	NCBI36
NG_007403.1:g.49220G>A , LRG_73:g.49220G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000417.3:c.757G>A MANE Select	NP_000408.1:p.Val253Ile
ENST00000379959.8:c.757G>A MANE Select	ENSP00000369293.3:p.Val253Ile
NM_000417.2:c.757G>A , LRG_73t1:c.757G>A	NP_000408.1:p.Val253Ile
NM_001308242.1:c.541G>A	NP_001295171.1:p.Val181Ile
NM_001308242.2:c.541G>A	NP_001295171.1:p.Val181Ile
NM_001308243.1:c.469G>A	NP_001295172.1:p.Val157Ile
NM_001308243.2:c.469G>A	NP_001295172.1:p.Val157Ile
ENST00000256876.10:c.730G>A	ENSP00000256876.6:p.Val244Ile
ENST00000379954.5:c.541G>A	ENSP00000369287.1:p.Val181Ile
ENST00000379959.7:c.757G>A	ENSP00000369293.3:p.Val253Ile
ENST00000447847.2:c.469G>A	ENSP00000402024.2:p.Val157Ile
ENST00000649218.1:n.572G>A
ENST00000697424.1:c.685G>A	ENSP00000513307.1:p.Val229Ile