Canonical Allele Identifier: CA413496736

Gene: IL2RG

Linked Data

• dbSNP Id: rs1270657479
• gnomAD v2: X-70330448-C-G
• gnomAD v4: X-71110598-C-G
• MyVariant Identifiers: chrX:g.70330448C>G (hg19) ; chrX:g.71110598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110598C>G , CM000685.2:g.71110598C>G	GRCh38
NC_000023.10:g.70330448C>G , CM000685.1:g.70330448C>G	GRCh37
NC_000023.9:g.70247173C>G	NCBI36
NG_009088.1:g.5956G>C , LRG_150:g.5956G>C
NG_021141.1:g.1191G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.360G>C	ENSP00000421262.2:p.Lys120Asn
ENST00000696903.1:n.411G>C
ENST00000374202.7:c.360G>C MANE Select	ENSP00000363318.3:p.Lys120Asn
ENST00000642473.1:n.724G>C
ENST00000644022.1:n.766G>C
ENST00000644708.1:n.766G>C
ENST00000644911.1:n.766G>C
ENST00000645266.1:c.360G>C	ENSP00000493734.1:p.Lys120Asn
ENST00000645518.1:c.360G>C	ENSP00000493986.1:p.Lys120Asn
ENST00000646106.1:c.360G>C	ENSP00000496437.1:p.Lys120Asn
ENST00000646505.1:c.360G>C	ENSP00000496673.1:p.Lys120Asn
ENST00000647492.1:c.360G>C	ENSP00000495340.1:p.Lys120Asn
ENST00000276110.6:n.745G>C
ENST00000374188.7:c.-357G>C	ENSP00000363303.3:n.-357G>C
ENST00000374202.6:c.360G>C	ENSP00000363318.2:p.Lys120Asn
ENST00000456850.6:c.24+827G>C	ENSP00000388967.2:n.24+827G>C
ENST00000464642.5:c.228G>C	ENSP00000425233.1:p.Lys76Asn
ENST00000473378.1:c.297G>C	ENSP00000423601.1:p.Lys99Asn
ENST00000487883.1:c.324G>C	ENSP00000423966.1:p.Lys108Asn
ENST00000512747.3:n.427G>C
NM_000206.2:c.360G>C , LRG_150t1:c.360G>C	NP_000197.1:p.Lys120Asn
NM_000206.3:c.360G>C MANE Select	NP_000197.1:p.Lys120Asn