Canonical Allele Identifier: CA330970374

Gene: IL2RG

Linked Data

• dbSNP Id: rs780993957
• gnomAD v2: X-70330656-G-C
• gnomAD v3: X-71110806-G-C
• gnomAD v4: X-71110806-G-C
• MyVariant Identifiers: chrX:g.70330656G>C (hg19) ; chrX:g.71110806G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110806G>C , CM000685.2:g.71110806G>C	GRCh38
NC_000023.10:g.70330656G>C , CM000685.1:g.70330656G>C	GRCh37
NC_000023.9:g.70247381G>C	NCBI36
NG_009088.1:g.5748C>G , LRG_150:g.5748C>G
NG_021141.1:g.983C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.269+91C>G	ENSP00000421262.2:n.269+91C>G
ENST00000696903.1:n.320+91C>G
ENST00000374202.7:c.269+91C>G MANE Select	ENSP00000363318.3:n.269+91C>G
ENST00000642473.1:n.633+91C>G
ENST00000644022.1:n.675+91C>G
ENST00000644708.1:n.675+91C>G
ENST00000644911.1:n.675+91C>G
ENST00000645266.1:c.269+91C>G	ENSP00000493734.1:n.269+91C>G
ENST00000645518.1:c.269+91C>G	ENSP00000493986.1:n.269+91C>G
ENST00000646106.1:c.269+91C>G	ENSP00000496437.1:n.269+91C>G
ENST00000646505.1:c.269+91C>G	ENSP00000496673.1:n.269+91C>G
ENST00000647492.1:c.269+91C>G	ENSP00000495340.1:n.269+91C>G
ENST00000276110.6:n.654+91C>G
ENST00000374188.7:c.-448+91C>G	ENSP00000363303.3:n.-448+91C>G
ENST00000374202.6:c.269+91C>G	ENSP00000363318.2:n.269+91C>G
ENST00000456850.6:c.24+619C>G	ENSP00000388967.2:n.24+619C>G
ENST00000464642.5:c.137+91C>G	ENSP00000425233.1:n.137+91C>G
ENST00000473378.1:c.206+91C>G	ENSP00000423601.1:n.206+91C>G
ENST00000487883.1:c.233+91C>G	ENSP00000423966.1:n.233+91C>G
ENST00000512747.3:n.336+91C>G
NM_000206.2:c.269+91C>G , LRG_150t1:c.269+91C>G	NP_000197.1:n.269+91C>G
NM_000206.3:c.269+91C>G MANE Select	NP_000197.1:n.269+91C>G