Canonical Allele Identifier: CA5397427
Gene: IL2RA HGNC NCBI

Linked Data

ClinVar Variation Id: 300256
dbSNP Id: rs2228149
gnomAD v2: 10-6063508-G-A
gnomAD v3: 10-6021545-G-A
gnomAD v4: 10-6021545-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6021545G>A , CM000672.2:g.6021545G>A GRCh38
NC_000010.10:g.6063508G>A , CM000672.1:g.6063508G>A GRCh37
NC_000010.9:g.6103514G>A NCBI36
NG_007403.1:g.45765C>T , LRG_73:g.45765C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000447847.2:c.368-2046C>T ENSP00000402024.2:n.368-2046C>T
ENST00000697424.1:c.516C>T ENSP00000513307.1:p.His172=
ENST00000379959.8:c.516C>T MANE Select ENSP00000369293.3:p.His172=
ENST00000256876.10:c.516C>T ENSP00000256876.6:p.His172=
ENST00000379954.5:c.368-1604C>T ENSP00000369287.1:n.368-1604C>T
ENST00000379959.7:c.516C>T ENSP00000369293.3:p.His172=
ENST00000447847.1:c.280-2046C>T
NM_000417.2:c.516C>T , LRG_73t1:c.516C>T NP_000408.1:p.His172=
NM_001308242.1:c.368-1604C>T NP_001295171.1:n.368-1604C>T
NM_001308243.1:c.368-2046C>T NP_001295172.1:n.368-2046C>T
NM_000417.3:c.516C>T MANE Select NP_000408.1:p.His172=
NM_001308242.2:c.368-1604C>T NP_001295171.1:n.368-1604C>T
NM_001308243.2:c.368-2046C>T NP_001295172.1:n.368-2046C>T