Canonical Allele Identifier: CA413496956

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 2673240
• ClinVar RCV Id: RCV003457606
• MyVariant Identifiers: chrX:g.70330746C>T (hg19) ; chrX:g.71110896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110896C>T , CM000685.2:g.71110896C>T	GRCh38
NC_000023.10:g.70330746C>T , CM000685.1:g.70330746C>T	GRCh37
NC_000023.9:g.70247471C>T	NCBI36
NG_009088.1:g.5658G>A , LRG_150:g.5658G>A
NG_021141.1:g.893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.269+1G>A	ENSP00000421262.2:n.269+1G>A
ENST00000696903.1:n.320+1G>A
ENST00000374202.7:c.269+1G>A MANE Select	ENSP00000363318.3:n.269+1G>A
ENST00000642473.1:n.633+1G>A
ENST00000644022.1:n.675+1G>A
ENST00000644708.1:n.675+1G>A
ENST00000644911.1:n.675+1G>A
ENST00000645266.1:c.269+1G>A	ENSP00000493734.1:n.269+1G>A
ENST00000645518.1:c.269+1G>A	ENSP00000493986.1:n.269+1G>A
ENST00000646106.1:c.269+1G>A	ENSP00000496437.1:n.269+1G>A
ENST00000646505.1:c.269+1G>A	ENSP00000496673.1:n.269+1G>A
ENST00000647492.1:c.269+1G>A	ENSP00000495340.1:n.269+1G>A
ENST00000276110.6:n.654+1G>A
ENST00000374188.7:c.-448+1G>A	ENSP00000363303.3:n.-448+1G>A
ENST00000374202.6:c.269+1G>A	ENSP00000363318.2:n.269+1G>A
ENST00000456850.6:c.24+529G>A	ENSP00000388967.2:n.24+529G>A
ENST00000464642.5:c.137+1G>A	ENSP00000425233.1:n.137+1G>A
ENST00000473378.1:c.206+1G>A	ENSP00000423601.1:n.206+1G>A
ENST00000487883.1:c.233+1G>A	ENSP00000423966.1:n.233+1G>A
ENST00000512747.3:n.336+1G>A
NM_000206.2:c.269+1G>A , LRG_150t1:c.269+1G>A	NP_000197.1:n.269+1G>A
NM_000206.3:c.269+1G>A MANE Select	NP_000197.1:n.269+1G>A