Canonical Allele Identifier: CA10635969
Gene: IL2RA HGNC NCBI

Linked Data

ClinVar Variation Id: 300215
ClinVar RCV Id: RCV000306114
dbSNP Id: rs12722607
gnomAD v2: 10-6052955-G-C
gnomAD v3: 10-6010992-G-C
gnomAD v4: 10-6010992-G-C
MyVariant Identifiers: chr10:g.6052955G>C (hg19) chr10:g.6010992G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6010992G>C , CM000672.2:g.6010992G>C GRCh38
NC_000010.10:g.6052955G>C , CM000672.1:g.6052955G>C GRCh37
NC_000010.9:g.6092961G>C NCBI36
NG_007403.1:g.56318C>G , LRG_73:g.56318C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379959.8:c.*1880C>G MANE Select ENSP00000369293.3:n.*1880C>G
ENST00000649218.1:n.2514C>G
ENST00000379959.7:c.*1880C>G ENSP00000369293.3:n.*1880C>G
NM_000417.2:c.*1880C>G , LRG_73t1:c.*1880C>G NP_000408.1:n.*1880C>G
NM_001308242.1:c.*1880C>G NP_001295171.1:n.*1880C>G
NM_001308243.1:c.*1880C>G NP_001295172.1:n.*1880C>G
NM_000417.3:c.*1880C>G MANE Select NP_000408.1:n.*1880C>G
NM_001308242.2:c.*1880C>G NP_001295171.1:n.*1880C>G
NM_001308243.2:c.*1880C>G NP_001295172.1:n.*1880C>G
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