Canonical Allele Identifier: CA516818600

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70330791G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110941G>A , CM000685.2:g.71110941G>A	GRCh38
NC_000023.10:g.70330791G>A , CM000685.1:g.70330791G>A	GRCh37
NC_000023.9:g.70247516G>A	NCBI36
NG_009088.1:g.5613C>T , LRG_150:g.5613C>T
NG_021141.1:g.848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.225C>T	ENSP00000421262.2:p.Asn75=
ENST00000696903.1:n.276C>T
ENST00000374202.7:c.225C>T MANE Select	ENSP00000363318.3:p.Asn75=
ENST00000642473.1:n.589C>T
ENST00000644022.1:n.631C>T
ENST00000644708.1:n.631C>T
ENST00000644911.1:n.631C>T
ENST00000645266.1:c.225C>T	ENSP00000493734.1:p.Asn75=
ENST00000645518.1:c.225C>T	ENSP00000493986.1:p.Asn75=
ENST00000646106.1:c.225C>T	ENSP00000496437.1:p.Asn75=
ENST00000646505.1:c.225C>T	ENSP00000496673.1:p.Asn75=
ENST00000647492.1:c.225C>T	ENSP00000495340.1:p.Asn75=
ENST00000276110.6:n.610C>T
ENST00000374188.7:c.-492C>T	ENSP00000363303.3:n.-492C>T
ENST00000374202.6:c.225C>T	ENSP00000363318.2:p.Asn75=
ENST00000456850.6:c.24+484C>T	ENSP00000388967.2:n.24+484C>T
ENST00000464642.5:c.93C>T	ENSP00000425233.1:p.Asn31=
ENST00000473378.1:c.162C>T	ENSP00000423601.1:p.Asn54=
ENST00000487883.1:c.189C>T	ENSP00000423966.1:p.Asn63=
ENST00000512747.3:n.292C>T
NM_000206.2:c.225C>T , LRG_150t1:c.225C>T	NP_000197.1:p.Asn75=
NM_000206.3:c.225C>T MANE Select	NP_000197.1:p.Asn75=