Canonical Allele Identifier: CA413496993

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70330763G>C (hg19) ; chrX:g.71110913G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110913G>C , CM000685.2:g.71110913G>C	GRCh38
NC_000023.10:g.70330763G>C , CM000685.1:g.70330763G>C	GRCh37
NC_000023.9:g.70247488G>C	NCBI36
NG_009088.1:g.5641C>G , LRG_150:g.5641C>G
NG_021141.1:g.876C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.253C>G	ENSP00000421262.2:p.Leu85Val
ENST00000696903.1:n.304C>G
ENST00000374202.7:c.253C>G MANE Select	ENSP00000363318.3:p.Leu85Val
ENST00000642473.1:n.617C>G
ENST00000644022.1:n.659C>G
ENST00000644708.1:n.659C>G
ENST00000644911.1:n.659C>G
ENST00000645266.1:c.253C>G	ENSP00000493734.1:p.Leu85Val
ENST00000645518.1:c.253C>G	ENSP00000493986.1:p.Leu85Val
ENST00000646106.1:c.253C>G	ENSP00000496437.1:p.Leu85Val
ENST00000646505.1:c.253C>G	ENSP00000496673.1:p.Leu85Val
ENST00000647492.1:c.253C>G	ENSP00000495340.1:p.Leu85Val
ENST00000276110.6:n.638C>G
ENST00000374188.7:c.-464C>G	ENSP00000363303.3:n.-464C>G
ENST00000374202.6:c.253C>G	ENSP00000363318.2:p.Leu85Val
ENST00000456850.6:c.24+512C>G	ENSP00000388967.2:n.24+512C>G
ENST00000464642.5:c.121C>G	ENSP00000425233.1:p.Leu41Val
ENST00000473378.1:c.190C>G	ENSP00000423601.1:p.Leu64Val
ENST00000487883.1:c.217C>G	ENSP00000423966.1:p.Leu73Val
ENST00000512747.3:n.320C>G
NM_000206.2:c.253C>G , LRG_150t1:c.253C>G	NP_000197.1:p.Leu85Val
NM_000206.3:c.253C>G MANE Select	NP_000197.1:p.Leu85Val