Canonical Allele Identifier: CA413496147

Gene: IL2RG

Linked Data

• dbSNP Id: rs987981899
• MyVariant Identifiers: chrX:g.70329228C>A (hg19) ; chrX:g.71109378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109378C>A , CM000685.2:g.71109378C>A	GRCh38
NC_000023.10:g.70329228C>A , CM000685.1:g.70329228C>A	GRCh37
NC_000023.9:g.70245953C>A	NCBI36
NG_009088.1:g.7176G>T , LRG_150:g.7176G>T
NG_021141.1:g.2411G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.607G>T	ENSP00000421262.2:p.Asp203Tyr
ENST00000696903.1:n.658G>T
ENST00000374202.7:c.607G>T MANE Select	ENSP00000363318.3:p.Asp203Tyr
ENST00000642473.1:n.971G>T
ENST00000644022.1:n.873G>T
ENST00000644708.1:n.1013G>T
ENST00000644911.1:n.1013G>T
ENST00000645266.1:c.607G>T	ENSP00000493734.1:p.Asp203Tyr
ENST00000645518.1:c.607G>T	ENSP00000493986.1:p.Asp203Tyr
ENST00000646106.1:c.607G>T	ENSP00000496437.1:p.Asp203Tyr
ENST00000646505.1:c.607G>T	ENSP00000496673.1:p.Asp203Tyr
ENST00000647492.1:c.607G>T	ENSP00000495340.1:p.Asp203Tyr
ENST00000276110.6:n.1200G>T
ENST00000374188.7:c.-110G>T	ENSP00000363303.3:n.-110G>T
ENST00000374202.6:c.607G>T	ENSP00000363318.2:p.Asp203Tyr
ENST00000456850.6:c.37G>T	ENSP00000388967.2:p.Asp13Tyr
ENST00000464642.5:c.475G>T	ENSP00000425233.1:p.Asp159Tyr
ENST00000482750.5:c.20G>T
ENST00000512747.3:n.534G>T
NM_000206.2:c.607G>T , LRG_150t1:c.607G>T	NP_000197.1:p.Asp203Tyr
NM_000206.3:c.607G>T MANE Select	NP_000197.1:p.Asp203Tyr