Canonical Allele Identifier: CA411425120

Gene: IL2RB

Linked Data

• gnomAD v4: 22-37128590-A-G
• MyVariant Identifiers: chr22:g.37524630A>G (hg19) ; chr22:g.37128590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37128590A>G , CM000684.2:g.37128590A>G	GRCh38
NC_000022.10:g.37524630A>G , CM000684.1:g.37524630A>G	GRCh37
NC_000022.9:g.35854576A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429622.6:c.1162T>C	ENSP00000402685.2:p.Ser388Pro
ENST00000445595.2:c.1162T>C	ENSP00000401020.2:p.Ser388Pro
ENST00000453962.6:c.1162T>C	ENSP00000403731.2:p.Ser388Pro
ENST00000698883.1:c.1162T>C	ENSP00000514005.1:p.Ser388Pro
ENST00000698890.1:c.1162T>C	ENSP00000514009.1:p.Ser388Pro
ENST00000698891.1:c.*1154T>C	ENSP00000514010.1:n.*1154T>C
ENST00000698892.1:c.1162T>C	ENSP00000514011.1:p.Ser388Pro
ENST00000698893.1:c.1162T>C	ENSP00000514012.1:p.Ser388Pro
ENST00000698894.1:c.1180T>C	ENSP00000514013.1:p.Ser394Pro
ENST00000698895.1:c.*962T>C	ENSP00000514014.1:n.*962T>C
ENST00000698896.1:c.*921T>C	ENSP00000514015.1:n.*921T>C
ENST00000698902.1:c.1159T>C	ENSP00000514017.1:p.Ser387Pro
ENST00000698903.1:c.1159T>C	ENSP00000514018.1:p.Ser387Pro
ENST00000698904.1:c.1135T>C	ENSP00000514019.1:p.Ser379Pro
ENST00000698905.1:c.*336T>C	ENSP00000514020.1:n.*336T>C
ENST00000703410.1:c.903+3794T>C	ENSP00000516411.1:n.903+3794T>C
ENST00000216223.10:c.1162T>C MANE Select	ENSP00000216223.5:p.Ser388Pro
ENST00000216223.9:c.1162T>C	ENSP00000216223.5:p.Ser388Pro
ENST00000483573.1:n.640T>C
NM_000878.3:c.1162T>C	NP_000869.1:p.Ser388Pro
NM_000878.4:c.1162T>C	NP_000869.1:p.Ser388Pro
NM_001346222.1:c.1162T>C	NP_001333151.1:p.Ser388Pro
NM_001346223.1:c.1162T>C	NP_001333152.1:p.Ser388Pro
NM_000878.5:c.1162T>C MANE Select	NP_000869.1:p.Ser388Pro
NM_001346223.2:c.1162T>C	NP_001333152.1:p.Ser388Pro