Canonical Allele Identifier: CA591463008
Gene: IL2RA HGNC NCBI

Linked Data

dbSNP Id: rs1171740329
gnomAD v2: 10-6101809-C-A
gnomAD v3: 10-6059846-C-A
gnomAD v4: 10-6059846-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6059846C>A , CM000672.2:g.6059846C>A GRCh38
NC_000010.10:g.6101809C>A , CM000672.1:g.6101809C>A GRCh37
NC_000010.9:g.6141815C>A NCBI36
NG_007403.1:g.7464G>T , LRG_73:g.7464G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447847.2:c.64+2242G>T ENSP00000402024.2:n.64+2242G>T
ENST00000697424.1:c.64+2242G>T ENSP00000513307.1:n.64+2242G>T
ENST00000379959.8:c.64+2242G>T MANE Select ENSP00000369293.3:n.64+2242G>T
ENST00000644262.1:n.279+2246G>T
ENST00000256876.10:c.64+2242G>T ENSP00000256876.6:n.64+2242G>T
ENST00000379954.5:c.64+2242G>T ENSP00000369287.1:n.64+2242G>T
ENST00000379959.7:c.64+2242G>T ENSP00000369293.3:n.64+2242G>T
NM_000417.2:c.64+2242G>T , LRG_73t1:c.64+2242G>T NP_000408.1:n.64+2242G>T
NM_001308242.1:c.64+2242G>T NP_001295171.1:n.64+2242G>T
NM_001308243.1:c.64+2242G>T NP_001295172.1:n.64+2242G>T
NM_000417.3:c.64+2242G>T MANE Select NP_000408.1:n.64+2242G>T
NM_001308242.2:c.64+2242G>T NP_001295171.1:n.64+2242G>T
NM_001308243.2:c.64+2242G>T NP_001295172.1:n.64+2242G>T