Canonical Allele Identifier: CA413496047

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70329186T>G (hg19) ; chrX:g.71109336T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109336T>G , CM000685.2:g.71109336T>G	GRCh38
NC_000023.10:g.70329186T>G , CM000685.1:g.70329186T>G	GRCh37
NC_000023.9:g.70245911T>G	NCBI36
NG_009088.1:g.7218A>C , LRG_150:g.7218A>C
NG_021141.1:g.2453A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.649A>C	ENSP00000421262.2:p.Lys217Gln
ENST00000696903.1:n.700A>C
ENST00000374202.7:c.649A>C MANE Select	ENSP00000363318.3:p.Lys217Gln
ENST00000642473.1:n.1013A>C
ENST00000644022.1:n.915A>C
ENST00000644708.1:n.1055A>C
ENST00000644911.1:n.1055A>C
ENST00000645266.1:c.649A>C	ENSP00000493734.1:p.Lys217Gln
ENST00000645518.1:c.649A>C	ENSP00000493986.1:p.Lys217Gln
ENST00000646106.1:c.649A>C	ENSP00000496437.1:p.Lys217Gln
ENST00000646505.1:c.649A>C	ENSP00000496673.1:p.Lys217Gln
ENST00000647492.1:c.649A>C	ENSP00000495340.1:p.Lys217Gln
ENST00000276110.6:n.1242A>C
ENST00000374188.7:c.-68A>C	ENSP00000363303.3:n.-68A>C
ENST00000374202.6:c.649A>C	ENSP00000363318.2:p.Lys217Gln
ENST00000456850.6:c.79A>C	ENSP00000388967.2:p.Lys27Gln
ENST00000464642.5:c.517A>C	ENSP00000425233.1:p.Lys173Gln
ENST00000482750.5:c.62A>C
ENST00000512747.3:n.576A>C
NM_000206.2:c.649A>C , LRG_150t1:c.649A>C	NP_000197.1:p.Lys217Gln
NM_000206.3:c.649A>C MANE Select	NP_000197.1:p.Lys217Gln