Canonical Allele Identifier: CA591453789
Gene: IL2RA HGNC NCBI

Linked Data

dbSNP Id: rs1273607911
gnomAD v2: 10-6053278-G-A
gnomAD v3: 10-6011315-G-A
gnomAD v4: 10-6011315-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6011315G>A , CM000672.2:g.6011315G>A GRCh38
NC_000010.10:g.6053278G>A , CM000672.1:g.6053278G>A GRCh37
NC_000010.9:g.6093284G>A NCBI36
NG_007403.1:g.55995C>T , LRG_73:g.55995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379959.8:c.*1557C>T MANE Select ENSP00000369293.3:n.*1557C>T
ENST00000649218.1:n.2191C>T
ENST00000379959.7:c.*1557C>T ENSP00000369293.3:n.*1557C>T
NM_000417.2:c.*1557C>T , LRG_73t1:c.*1557C>T NP_000408.1:n.*1557C>T
NM_001308242.1:c.*1557C>T NP_001295171.1:n.*1557C>T
NM_001308243.1:c.*1557C>T NP_001295172.1:n.*1557C>T
NM_000417.3:c.*1557C>T MANE Select NP_000408.1:n.*1557C>T
NM_001308242.2:c.*1557C>T NP_001295171.1:n.*1557C>T
NM_001308243.2:c.*1557C>T NP_001295172.1:n.*1557C>T