Canonical Allele Identifier: CA2436348697
Gene: IL2RG HGNC NCBI

Linked Data

dbSNP Id: rs2092262029
gnomAD v4: X-71110782-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110782T>G , CM000685.2:g.71110782T>G GRCh38
NC_000023.10:g.70330632T>G , CM000685.1:g.70330632T>G GRCh37
NC_000023.9:g.70247357T>G NCBI36
NG_009088.1:g.5772A>C , LRG_150:g.5772A>C
NG_021141.1:g.1007A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.270-94A>C ENSP00000421262.2:n.270-94A>C
ENST00000696903.1:n.321-94A>C
ENST00000374202.7:c.270-94A>C MANE Select ENSP00000363318.3:n.270-94A>C
ENST00000642473.1:n.634-94A>C
ENST00000644022.1:n.676-94A>C
ENST00000644708.1:n.676-94A>C
ENST00000644911.1:n.676-94A>C
ENST00000645266.1:c.270-94A>C ENSP00000493734.1:n.270-94A>C
ENST00000645518.1:c.270-94A>C ENSP00000493986.1:n.270-94A>C
ENST00000646106.1:c.270-94A>C ENSP00000496437.1:n.270-94A>C
ENST00000646505.1:c.270-94A>C ENSP00000496673.1:n.270-94A>C
ENST00000647492.1:c.270-94A>C ENSP00000495340.1:n.270-94A>C
ENST00000276110.6:n.655-94A>C
ENST00000374188.7:c.-447-94A>C ENSP00000363303.3:n.-447-94A>C
ENST00000374202.6:c.270-94A>C ENSP00000363318.2:n.270-94A>C
ENST00000456850.6:c.24+643A>C ENSP00000388967.2:n.24+643A>C
ENST00000464642.5:c.138-94A>C ENSP00000425233.1:n.138-94A>C
ENST00000473378.1:c.207-94A>C ENSP00000423601.1:n.207-94A>C
ENST00000487883.1:c.234-94A>C ENSP00000423966.1:n.234-94A>C
ENST00000512747.3:n.337-94A>C
NM_000206.2:c.270-94A>C , LRG_150t1:c.270-94A>C NP_000197.1:n.270-94A>C
NM_000206.3:c.270-94A>C MANE Select NP_000197.1:n.270-94A>C