Canonical Allele Identifier: CA413497144

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70330825A>G (hg19) ; chrX:g.71110975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110975A>G , CM000685.2:g.71110975A>G	GRCh38
NC_000023.10:g.70330825A>G , CM000685.1:g.70330825A>G	GRCh37
NC_000023.9:g.70247550A>G	NCBI36
NG_009088.1:g.5579T>C , LRG_150:g.5579T>C
NG_021141.1:g.814T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.191T>C	ENSP00000421262.2:p.Val64Ala
ENST00000696903.1:n.242T>C
ENST00000374202.7:c.191T>C MANE Select	ENSP00000363318.3:p.Val64Ala
ENST00000642473.1:n.555T>C
ENST00000644022.1:n.597T>C
ENST00000644708.1:n.597T>C
ENST00000644911.1:n.597T>C
ENST00000645266.1:c.191T>C	ENSP00000493734.1:p.Val64Ala
ENST00000645518.1:c.191T>C	ENSP00000493986.1:p.Val64Ala
ENST00000646106.1:c.191T>C	ENSP00000496437.1:p.Val64Ala
ENST00000646505.1:c.191T>C	ENSP00000496673.1:p.Val64Ala
ENST00000647492.1:c.191T>C	ENSP00000495340.1:p.Val64Ala
ENST00000276110.6:n.576T>C
ENST00000374188.7:c.-526T>C	ENSP00000363303.3:n.-526T>C
ENST00000374202.6:c.191T>C	ENSP00000363318.2:p.Val64Ala
ENST00000456850.6:c.24+450T>C	ENSP00000388967.2:n.24+450T>C
ENST00000464642.5:c.59T>C	ENSP00000425233.1:p.Val20Ala
ENST00000473378.1:c.128T>C	ENSP00000423601.1:p.Val43Ala
ENST00000487883.1:c.155T>C	ENSP00000423966.1:p.Val52Ala
ENST00000512747.3:n.258T>C
NM_000206.2:c.191T>C , LRG_150t1:c.191T>C	NP_000197.1:p.Val64Ala
NM_000206.3:c.191T>C MANE Select	NP_000197.1:p.Val64Ala