Canonical Allele Identifier: CA13235915
Gene: IL2RA HGNC NCBI
dbSNP:
7900744
gnomAD v2:
10:6065611 A / G
gnomAD v3:
10:6023648 A / G
gnomAD v4:
chr10-6023648-A-G
Joint Max Group AF 0.43154912 (AFR)
Genomes Max Group AF 0.43154912 (AFR)
MyVariant.info:
GRCh38 chr10:g.6023648A>G
GRCh37 chr10:g.6065611A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6023648A>G , CM000672.2:g.6023648A>G GRCh38
NC_000010.10:g.6065611A>G , CM000672.1:g.6065611A>G GRCh37
NC_000010.9:g.6105617A>G NCBI36
NG_007403.1:g.43662T>C , LRG_73:g.43662T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447847.2:c.367+596T>C ENSP00000402024.2:n.367+596T>C
ENST00000697424.1:c.367+596T>C ENSP00000513307.1:n.367+596T>C
ENST00000379959.8:c.367+596T>C MANE Select ENSP00000369293.3:n.367+596T>C
ENST00000256876.10:c.367+596T>C ENSP00000256876.6:n.367+596T>C
ENST00000379954.5:c.367+596T>C ENSP00000369287.1:n.367+596T>C
ENST00000379959.7:c.367+596T>C ENSP00000369293.3:n.367+596T>C
ENST00000447847.1:c.279+596T>C
NM_000417.2:c.367+596T>C , LRG_73t1:c.367+596T>C NP_000408.1:n.367+596T>C
NM_001308242.1:c.367+596T>C NP_001295171.1:n.367+596T>C
NM_001308243.1:c.367+596T>C NP_001295172.1:n.367+596T>C
NM_000417.3:c.367+596T>C MANE Select NP_000408.1:n.367+596T>C
NM_001308242.2:c.367+596T>C NP_001295171.1:n.367+596T>C
NM_001308243.2:c.367+596T>C NP_001295172.1:n.367+596T>C
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