Canonical Allele Identifier: CA202287723
Gene: IL2RA HGNC NCBI

Linked Data

dbSNP Id: rs976583673
gnomAD v2: 10-6053078-T-C
gnomAD v3: 10-6011115-T-C
gnomAD v4: 10-6011115-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6011115T>C , CM000672.2:g.6011115T>C GRCh38
NC_000010.10:g.6053078T>C , CM000672.1:g.6053078T>C GRCh37
NC_000010.9:g.6093084T>C NCBI36
NG_007403.1:g.56195A>G , LRG_73:g.56195A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379959.8:c.*1757A>G MANE Select ENSP00000369293.3:n.*1757A>G
ENST00000649218.1:n.2391A>G
ENST00000379959.7:c.*1757A>G ENSP00000369293.3:n.*1757A>G
NM_000417.2:c.*1757A>G , LRG_73t1:c.*1757A>G NP_000408.1:n.*1757A>G
NM_001308242.1:c.*1757A>G NP_001295171.1:n.*1757A>G
NM_001308243.1:c.*1757A>G NP_001295172.1:n.*1757A>G
NM_000417.3:c.*1757A>G MANE Select NP_000408.1:n.*1757A>G
NM_001308242.2:c.*1757A>G NP_001295171.1:n.*1757A>G
NM_001308243.2:c.*1757A>G NP_001295172.1:n.*1757A>G