Canonical Allele Identifier: CA413497058
Gene: IL2RG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110941G>C , CM000685.2:g.71110941G>C GRCh38
NC_000023.10:g.70330791G>C , CM000685.1:g.70330791G>C GRCh37
NC_000023.9:g.70247516G>C NCBI36
NG_009088.1:g.5613C>G , LRG_150:g.5613C>G
NG_021141.1:g.848C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.225C>G ENSP00000421262.2:p.Asn75Lys
ENST00000696903.1:n.276C>G
ENST00000374202.7:c.225C>G MANE Select ENSP00000363318.3:p.Asn75Lys
ENST00000642473.1:n.589C>G
ENST00000644022.1:n.631C>G
ENST00000644708.1:n.631C>G
ENST00000644911.1:n.631C>G
ENST00000645266.1:c.225C>G ENSP00000493734.1:p.Asn75Lys
ENST00000645518.1:c.225C>G ENSP00000493986.1:p.Asn75Lys
ENST00000646106.1:c.225C>G ENSP00000496437.1:p.Asn75Lys
ENST00000646505.1:c.225C>G ENSP00000496673.1:p.Asn75Lys
ENST00000647492.1:c.225C>G ENSP00000495340.1:p.Asn75Lys
ENST00000276110.6:n.610C>G
ENST00000374188.7:c.-492C>G ENSP00000363303.3:n.-492C>G
ENST00000374202.6:c.225C>G ENSP00000363318.2:p.Asn75Lys
ENST00000456850.6:c.24+484C>G ENSP00000388967.2:n.24+484C>G
ENST00000464642.5:c.93C>G ENSP00000425233.1:p.Asn31Lys
ENST00000473378.1:c.162C>G ENSP00000423601.1:p.Asn54Lys
ENST00000487883.1:c.189C>G ENSP00000423966.1:p.Asn63Lys
ENST00000512747.3:n.292C>G
NM_000206.2:c.225C>G , LRG_150t1:c.225C>G NP_000197.1:p.Asn75Lys
NM_000206.3:c.225C>G MANE Select NP_000197.1:p.Asn75Lys