Canonical Allele Identifier: CA516705720

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70329148T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109298T>G , CM000685.2:g.71109298T>G	GRCh38
NC_000023.10:g.70329148T>G , CM000685.1:g.70329148T>G	GRCh37
NC_000023.9:g.70245873T>G	NCBI36
NG_009088.1:g.7256A>C , LRG_150:g.7256A>C
NG_021141.1:g.2491A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.687A>C	ENSP00000421262.2:p.Pro229=
ENST00000696903.1:n.738A>C
ENST00000374202.7:c.687A>C MANE Select	ENSP00000363318.3:p.Pro229=
ENST00000642473.1:n.1051A>C
ENST00000644022.1:n.953A>C
ENST00000644708.1:n.1093A>C
ENST00000644911.1:n.1093A>C
ENST00000645266.1:c.687A>C	ENSP00000493734.1:p.Pro229=
ENST00000645518.1:c.687A>C	ENSP00000493986.1:p.Pro229=
ENST00000646106.1:c.687A>C	ENSP00000496437.1:p.Pro229=
ENST00000646505.1:c.687A>C	ENSP00000496673.1:p.Pro229=
ENST00000647492.1:c.687A>C	ENSP00000495340.1:p.Pro229=
ENST00000276110.6:n.1280A>C
ENST00000374188.7:c.-30A>C	ENSP00000363303.3:n.-30A>C
ENST00000374202.6:c.687A>C	ENSP00000363318.2:p.Pro229=
ENST00000456850.6:c.117A>C	ENSP00000388967.2:p.Pro39=
ENST00000464642.5:c.555A>C	ENSP00000425233.1:p.Pro185=
ENST00000482750.5:c.100A>C
ENST00000512747.3:n.614A>C
NM_000206.2:c.687A>C , LRG_150t1:c.687A>C	NP_000197.1:p.Pro229=
NM_000206.3:c.687A>C MANE Select	NP_000197.1:p.Pro229=