Canonical Allele Identifier: CA667039932
Gene: IL2RA HGNC NCBI

Linked Data

dbSNP Id: rs1348145432
gnomAD v3: 10-6011048-AC-A
gnomAD v4: 10-6011048-AC-A
MyVariant Identifiers: chr10:g.6053012del (hg19) chr10:g.6011049del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6011049del , CM000672.2:g.6011049del GRCh38
NC_000010.10:g.6053012del , CM000672.1:g.6053012del GRCh37
NC_000010.9:g.6093018del NCBI36
NG_007403.1:g.56261del , LRG_73:g.56261del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379959.8:c.*1823del MANE Select ENSP00000369293.3:n.*1823del
ENST00000649218.1:n.2457del
ENST00000379959.7:c.*1823del ENSP00000369293.3:n.*1823del
NM_000417.2:c.*1823del , LRG_73t1:c.*1823del NP_000408.1:n.*1823del
NM_001308242.1:c.*1823del NP_001295171.1:n.*1823del
NM_001308243.1:c.*1823del NP_001295172.1:n.*1823del
NM_000417.3:c.*1823del MANE Select NP_000408.1:n.*1823del
NM_001308242.2:c.*1823del NP_001295171.1:n.*1823del
NM_001308243.2:c.*1823del NP_001295172.1:n.*1823del
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