Canonical Allele Identifier: CA1139661376
Gene: IL2RA HGNC NCBI

Linked Data

ClinVar Variation Id: 879103
ClinVar RCV Id: RCV001106295
dbSNP Id: rs1839186433
gnomAD v3: 10-6011229-G-T
gnomAD v4: 10-6011229-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6011229G>T , CM000672.2:g.6011229G>T GRCh38
NC_000010.10:g.6053192G>T , CM000672.1:g.6053192G>T GRCh37
NC_000010.9:g.6093198G>T NCBI36
NG_007403.1:g.56081C>A , LRG_73:g.56081C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379959.8:c.*1643C>A MANE Select ENSP00000369293.3:n.*1643C>A
ENST00000649218.1:n.2277C>A
ENST00000379959.7:c.*1643C>A ENSP00000369293.3:n.*1643C>A
NM_000417.2:c.*1643C>A , LRG_73t1:c.*1643C>A NP_000408.1:n.*1643C>A
NM_001308242.1:c.*1643C>A NP_001295171.1:n.*1643C>A
NM_001308243.1:c.*1643C>A NP_001295172.1:n.*1643C>A
NM_000417.3:c.*1643C>A MANE Select NP_000408.1:n.*1643C>A
NM_001308242.2:c.*1643C>A NP_001295171.1:n.*1643C>A
NM_001308243.2:c.*1643C>A NP_001295172.1:n.*1643C>A
Search 100 bp 5'
Search 100 bp 3'