Canonical Allele Identifier: CA413497147

Gene: IL2RG

Linked Data

• MyVariant Identifiers: chrX:g.70330826C>G (hg19) ; chrX:g.71110976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110976C>G , CM000685.2:g.71110976C>G	GRCh38
NC_000023.10:g.70330826C>G , CM000685.1:g.70330826C>G	GRCh37
NC_000023.9:g.70247551C>G	NCBI36
NG_009088.1:g.5578G>C , LRG_150:g.5578G>C
NG_021141.1:g.813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.190G>C	ENSP00000421262.2:p.Val64Leu
ENST00000696903.1:n.241G>C
ENST00000374202.7:c.190G>C MANE Select	ENSP00000363318.3:p.Val64Leu
ENST00000642473.1:n.554G>C
ENST00000644022.1:n.596G>C
ENST00000644708.1:n.596G>C
ENST00000644911.1:n.596G>C
ENST00000645266.1:c.190G>C	ENSP00000493734.1:p.Val64Leu
ENST00000645518.1:c.190G>C	ENSP00000493986.1:p.Val64Leu
ENST00000646106.1:c.190G>C	ENSP00000496437.1:p.Val64Leu
ENST00000646505.1:c.190G>C	ENSP00000496673.1:p.Val64Leu
ENST00000647492.1:c.190G>C	ENSP00000495340.1:p.Val64Leu
ENST00000276110.6:n.575G>C
ENST00000374188.7:c.-527G>C	ENSP00000363303.3:n.-527G>C
ENST00000374202.6:c.190G>C	ENSP00000363318.2:p.Val64Leu
ENST00000456850.6:c.24+449G>C	ENSP00000388967.2:n.24+449G>C
ENST00000464642.5:c.58G>C	ENSP00000425233.1:p.Val20Leu
ENST00000473378.1:c.127G>C	ENSP00000423601.1:p.Val43Leu
ENST00000487883.1:c.154G>C	ENSP00000423966.1:p.Val52Leu
ENST00000512747.3:n.257G>C
NM_000206.2:c.190G>C , LRG_150t1:c.190G>C	NP_000197.1:p.Val64Leu
NM_000206.3:c.190G>C MANE Select	NP_000197.1:p.Val64Leu