Canonical Allele Identifier: CA375926490
Community Standard Title: NM_000417.3(IL2RA):c.497G>T (p.Ser166Ile)
Gene: IL2RA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6021564C>A , CM000672.2:g.6021564C>A GRCh38
NC_000010.10:g.6063527C>A , CM000672.1:g.6063527C>A GRCh37
NC_000010.9:g.6103533C>A NCBI36
NG_007403.1:g.45746G>T , LRG_73:g.45746G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000417.3:c.497G>T MANE Select NP_000408.1:p.Ser166Ile
ENST00000379959.8:c.497G>T MANE Select ENSP00000369293.3:p.Ser166Ile
NM_000417.2:c.497G>T , LRG_73t1:c.497G>T NP_000408.1:p.Ser166Ile
NM_001308242.1:c.368-1623G>T NP_001295171.1:n.368-1623G>T
NM_001308242.2:c.368-1623G>T NP_001295171.1:n.368-1623G>T
NM_001308243.1:c.368-2065G>T NP_001295172.1:n.368-2065G>T
NM_001308243.2:c.368-2065G>T NP_001295172.1:n.368-2065G>T
ENST00000256876.10:c.497G>T ENSP00000256876.6:p.Ser166Ile
ENST00000379954.5:c.368-1623G>T ENSP00000369287.1:n.368-1623G>T
ENST00000379959.7:c.497G>T ENSP00000369293.3:p.Ser166Ile
ENST00000447847.1:c.280-2065G>T
ENST00000447847.2:c.368-2065G>T ENSP00000402024.2:n.368-2065G>T
ENST00000697424.1:c.497G>T ENSP00000513307.1:p.Ser166Ile