Canonical Allele Identifier: CA413628243

Gene: IL2RG

Linked Data

• gnomAD v4: X-71108285-T-C
• MyVariant Identifiers: chrX:g.70328135T>C (hg19) ; chrX:g.71108285T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108285T>C , CM000685.2:g.71108285T>C	GRCh38
NC_000023.10:g.70328135T>C , CM000685.1:g.70328135T>C	GRCh37
NC_000023.9:g.70244860T>C	NCBI36
NG_009088.1:g.8269A>G , LRG_150:g.8269A>G
NG_021141.1:g.3504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.*36A>G	ENSP00000421262.2:n.*36A>G
ENST00000696903.1:n.1219A>G
ENST00000374202.7:c.916A>G MANE Select	ENSP00000363318.3:p.Asn306Asp
ENST00000642473.1:n.1280A>G
ENST00000644022.1:n.1182A>G
ENST00000644708.1:n.1225A>G
ENST00000644911.1:n.1322A>G
ENST00000645266.1:c.916A>G	ENSP00000493734.1:p.Asn306Asp
ENST00000645518.1:c.916A>G	ENSP00000493986.1:p.Asn306Asp
ENST00000646106.1:c.916A>G	ENSP00000496437.1:p.Asn306Asp
ENST00000646505.1:c.916A>G	ENSP00000496673.1:p.Asn306Asp
ENST00000647492.1:c.916A>G	ENSP00000495340.1:p.Asn306Asp
ENST00000276110.6:n.1509A>G
ENST00000374188.7:c.103A>G	ENSP00000363303.3:p.Asn35Asp
ENST00000374202.6:c.916A>G	ENSP00000363318.2:p.Asn306Asp
ENST00000456850.6:c.346A>G	ENSP00000388967.2:p.Asn116Asp
ENST00000482750.5:c.232A>G
ENST00000512747.3:n.1095A>G
NM_000206.2:c.916A>G , LRG_150t1:c.916A>G	NP_000197.1:p.Asn306Asp
NM_000206.3:c.916A>G MANE Select	NP_000197.1:p.Asn306Asp