Canonical Allele Identifier: CA2579638310

Gene: IL2RG

Linked Data

• gnomAD v4: X-71109195-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109195G>A , CM000685.2:g.71109195G>A	GRCh38
NC_000023.10:g.70329045G>A , CM000685.1:g.70329045G>A	GRCh37
NC_000023.9:g.70245770G>A	NCBI36
NG_009088.1:g.7359C>T , LRG_150:g.7359C>T
NG_021141.1:g.2594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.757+33C>T	ENSP00000421262.2:n.757+33C>T
ENST00000696903.1:n.808+33C>T
ENST00000374202.7:c.757+33C>T MANE Select	ENSP00000363318.3:n.757+33C>T
ENST00000642473.1:n.1121+33C>T
ENST00000644022.1:n.1023+33C>T
ENST00000644708.1:n.1163+33C>T
ENST00000644911.1:n.1163+33C>T
ENST00000645266.1:c.757+33C>T	ENSP00000493734.1:n.757+33C>T
ENST00000645518.1:c.757+33C>T	ENSP00000493986.1:n.757+33C>T
ENST00000646106.1:c.757+33C>T	ENSP00000496437.1:n.757+33C>T
ENST00000646505.1:c.757+33C>T	ENSP00000496673.1:n.757+33C>T
ENST00000647492.1:c.757+33C>T	ENSP00000495340.1:n.757+33C>T
ENST00000276110.6:n.1350+33C>T
ENST00000374188.7:c.41+33C>T	ENSP00000363303.3:n.41+33C>T
ENST00000374202.6:c.757+33C>T	ENSP00000363318.2:n.757+33C>T
ENST00000456850.6:c.187+33C>T	ENSP00000388967.2:n.187+33C>T
ENST00000464642.5:c.625+33C>T	ENSP00000425233.1:n.625+33C>T
ENST00000482750.5:c.170+33C>T
ENST00000512747.3:n.684+33C>T
NM_000206.2:c.757+33C>T , LRG_150t1:c.757+33C>T	NP_000197.1:n.757+33C>T
NM_000206.3:c.757+33C>T MANE Select	NP_000197.1:n.757+33C>T