Canonical Allele Identifier: CA413628213

Gene: IL2RG

Linked Data

• dbSNP Id: rs137852509
• gnomAD v2: X-70328128-G-A
• gnomAD v3: X-71108278-G-A
• gnomAD v4: X-71108278-G-A
• COSMIC: COSM1124596 ; COSM1124597
• MyVariant Identifiers: chrX:g.70328128G>A (hg19) ; chrX:g.71108278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108278G>A , CM000685.2:g.71108278G>A	GRCh38
NC_000023.10:g.70328128G>A , CM000685.1:g.70328128G>A	GRCh37
NC_000023.9:g.70244853G>A	NCBI36
NG_009088.1:g.8276C>T , LRG_150:g.8276C>T
NG_021141.1:g.3511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.*43C>T	ENSP00000421262.2:n.*43C>T
ENST00000696903.1:n.1226C>T
ENST00000374202.7:c.923C>T MANE Select	ENSP00000363318.3:p.Ser308Leu
ENST00000642473.1:n.1287C>T
ENST00000644022.1:n.1189C>T
ENST00000644708.1:n.1232C>T
ENST00000644911.1:n.1329C>T
ENST00000645266.1:c.923C>T	ENSP00000493734.1:p.Ser308Leu
ENST00000645518.1:c.923C>T	ENSP00000493986.1:p.Ser308Leu
ENST00000646106.1:c.923C>T	ENSP00000496437.1:p.Ser308Leu
ENST00000646505.1:c.923C>T	ENSP00000496673.1:p.Ser308Leu
ENST00000647492.1:c.923C>T	ENSP00000495340.1:p.Ser308Leu
ENST00000276110.6:n.1516C>T
ENST00000374188.7:c.110C>T	ENSP00000363303.3:p.Ser37Leu
ENST00000374202.6:c.923C>T	ENSP00000363318.2:p.Ser308Leu
ENST00000456850.6:c.353C>T	ENSP00000388967.2:p.Ser118Leu
ENST00000482750.5:c.239C>T
ENST00000512747.3:n.1102C>T
NM_000206.2:c.923C>T , LRG_150t1:c.923C>T	NP_000197.1:p.Ser308Leu
NM_000206.3:c.923C>T MANE Select	NP_000197.1:p.Ser308Leu