Canonical Allele Identifier: CA202316095
Gene: IL2RA HGNC NCBI

Linked Data

dbSNP Id: rs117378368
gnomAD v2: 10-6101672-C-A
gnomAD v3: 10-6059709-C-A
gnomAD v4: 10-6059709-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6059709C>A , CM000672.2:g.6059709C>A GRCh38
NC_000010.10:g.6101672C>A , CM000672.1:g.6101672C>A GRCh37
NC_000010.9:g.6141678C>A NCBI36
NG_007403.1:g.7601G>T , LRG_73:g.7601G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447847.2:c.64+2379G>T ENSP00000402024.2:n.64+2379G>T
ENST00000697424.1:c.64+2379G>T ENSP00000513307.1:n.64+2379G>T
ENST00000379959.8:c.64+2379G>T MANE Select ENSP00000369293.3:n.64+2379G>T
ENST00000644262.1:n.279+2383G>T
ENST00000256876.10:c.64+2379G>T ENSP00000256876.6:n.64+2379G>T
ENST00000379954.5:c.64+2379G>T ENSP00000369287.1:n.64+2379G>T
ENST00000379959.7:c.64+2379G>T ENSP00000369293.3:n.64+2379G>T
NM_000417.2:c.64+2379G>T , LRG_73t1:c.64+2379G>T NP_000408.1:n.64+2379G>T
NM_001308242.1:c.64+2379G>T NP_001295171.1:n.64+2379G>T
NM_001308243.1:c.64+2379G>T NP_001295172.1:n.64+2379G>T
NM_000417.3:c.64+2379G>T MANE Select NP_000408.1:n.64+2379G>T
NM_001308242.2:c.64+2379G>T NP_001295171.1:n.64+2379G>T
NM_001308243.2:c.64+2379G>T NP_001295172.1:n.64+2379G>T