Canonical Allele Identifier: CA10635542

Gene: IL2RA

Linked Data

• ClinVar Variation Id: 300216
• ClinVar RCV Id: RCV000360891
• dbSNP Id: rs74973937
• gnomAD v2: 10-6053063-T-G
• gnomAD v3: 10-6011100-T-G
• gnomAD v4: 10-6011100-T-G
• MyVariant Identifiers: chr10:g.6053063T>G (hg19) ; chr10:g.6011100T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.6011100T>G , CM000672.2:g.6011100T>G	GRCh38
NC_000010.10:g.6053063T>G , CM000672.1:g.6053063T>G	GRCh37
NC_000010.9:g.6093069T>G	NCBI36
NG_007403.1:g.56210A>C , LRG_73:g.56210A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379959.8:c.*1772A>C MANE Select	ENSP00000369293.3:n.*1772A>C
ENST00000649218.1:n.2406A>C
ENST00000379959.7:c.*1772A>C	ENSP00000369293.3:n.*1772A>C
NM_000417.2:c.*1772A>C , LRG_73t1:c.*1772A>C	NP_000408.1:n.*1772A>C
NM_001308242.1:c.*1772A>C	NP_001295171.1:n.*1772A>C
NM_001308243.1:c.*1772A>C	NP_001295172.1:n.*1772A>C
NM_000417.3:c.*1772A>C MANE Select	NP_000408.1:n.*1772A>C
NM_001308242.2:c.*1772A>C	NP_001295171.1:n.*1772A>C
NM_001308243.2:c.*1772A>C	NP_001295172.1:n.*1772A>C