Canonical Allele Identifier: CA591453784
Gene: IL2RA HGNC NCBI

Linked Data

dbSNP Id: rs1422752905
gnomAD v2: 10-6053145-C-T
gnomAD v3: 10-6011182-C-T
gnomAD v4: 10-6011182-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6011182C>T , CM000672.2:g.6011182C>T GRCh38
NC_000010.10:g.6053145C>T , CM000672.1:g.6053145C>T GRCh37
NC_000010.9:g.6093151C>T NCBI36
NG_007403.1:g.56128G>A , LRG_73:g.56128G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379959.8:c.*1690G>A MANE Select ENSP00000369293.3:n.*1690G>A
ENST00000649218.1:n.2324G>A
ENST00000379959.7:c.*1690G>A ENSP00000369293.3:n.*1690G>A
NM_000417.2:c.*1690G>A , LRG_73t1:c.*1690G>A NP_000408.1:n.*1690G>A
NM_001308242.1:c.*1690G>A NP_001295171.1:n.*1690G>A
NM_001308243.1:c.*1690G>A NP_001295172.1:n.*1690G>A
NM_000417.3:c.*1690G>A MANE Select NP_000408.1:n.*1690G>A
NM_001308242.2:c.*1690G>A NP_001295171.1:n.*1690G>A
NM_001308243.2:c.*1690G>A NP_001295172.1:n.*1690G>A