Canonical Allele Identifier: CA10443917

Gene: IL2RG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71111007G>A , CM000685.2:g.71111007G>A	GRCh38
NC_000023.10:g.70330857G>A , CM000685.1:g.70330857G>A	GRCh37
NC_000023.9:g.70247582G>A	NCBI36
NG_009088.1:g.5547C>T , LRG_150:g.5547C>T
NG_021141.1:g.782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.159C>T	ENSP00000421262.2:p.Ser53=
ENST00000696903.1:n.210C>T
ENST00000374202.7:c.159C>T MANE Select	ENSP00000363318.3:p.Ser53=
ENST00000642473.1:n.523C>T
ENST00000644022.1:n.565C>T
ENST00000644708.1:n.565C>T
ENST00000644911.1:n.565C>T
ENST00000645266.1:c.159C>T	ENSP00000493734.1:p.Ser53=
ENST00000645518.1:c.159C>T	ENSP00000493986.1:p.Ser53=
ENST00000646106.1:c.159C>T	ENSP00000496437.1:p.Ser53=
ENST00000646505.1:c.159C>T	ENSP00000496673.1:p.Ser53=
ENST00000647492.1:c.159C>T	ENSP00000495340.1:p.Ser53=
ENST00000276110.6:n.544C>T
ENST00000374188.7:c.-558C>T	ENSP00000363303.3:n.-558C>T
ENST00000374202.6:c.159C>T	ENSP00000363318.2:p.Ser53=
ENST00000456850.6:c.24+418C>T	ENSP00000388967.2:n.24+418C>T
ENST00000464642.5:c.27C>T	ENSP00000425233.1:p.Ser9=
ENST00000473378.1:c.96C>T	ENSP00000423601.1:p.Ser32=
ENST00000487883.1:c.123C>T	ENSP00000423966.1:p.Ser41=
ENST00000512747.3:n.226C>T
NM_000206.2:c.159C>T , LRG_150t1:c.159C>T	NP_000197.1:p.Ser53=
NM_000206.3:c.159C>T MANE Select	NP_000197.1:p.Ser53=