Canonical Allele Identifier: CA10443913

Gene: IL2RG

Linked Data

• dbSNP Id: rs775243259
• ExAC: X:70330817 C / T
• gnomAD v2: X-70330817-C-T
• gnomAD v3: X-71110967-C-T
• gnomAD v4: X-71110967-C-T
• MyVariant Identifiers: chrX:g.70330817C>T (hg19) ; chrX:g.71110967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110967C>T , CM000685.2:g.71110967C>T	GRCh38
NC_000023.10:g.70330817C>T , CM000685.1:g.70330817C>T	GRCh37
NC_000023.9:g.70247542C>T	NCBI36
NG_009088.1:g.5587G>A , LRG_150:g.5587G>A
NG_021141.1:g.822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.199G>A	ENSP00000421262.2:p.Val67Ile
ENST00000696903.1:n.250G>A
ENST00000374202.7:c.199G>A MANE Select	ENSP00000363318.3:p.Val67Ile
ENST00000642473.1:n.563G>A
ENST00000644022.1:n.605G>A
ENST00000644708.1:n.605G>A
ENST00000644911.1:n.605G>A
ENST00000645266.1:c.199G>A	ENSP00000493734.1:p.Val67Ile
ENST00000645518.1:c.199G>A	ENSP00000493986.1:p.Val67Ile
ENST00000646106.1:c.199G>A	ENSP00000496437.1:p.Val67Ile
ENST00000646505.1:c.199G>A	ENSP00000496673.1:p.Val67Ile
ENST00000647492.1:c.199G>A	ENSP00000495340.1:p.Val67Ile
ENST00000276110.6:n.584G>A
ENST00000374188.7:c.-518G>A	ENSP00000363303.3:n.-518G>A
ENST00000374202.6:c.199G>A	ENSP00000363318.2:p.Val67Ile
ENST00000456850.6:c.24+458G>A	ENSP00000388967.2:n.24+458G>A
ENST00000464642.5:c.67G>A	ENSP00000425233.1:p.Val23Ile
ENST00000473378.1:c.136G>A	ENSP00000423601.1:p.Val46Ile
ENST00000487883.1:c.163G>A	ENSP00000423966.1:p.Val55Ile
ENST00000512747.3:n.266G>A
NM_000206.2:c.199G>A , LRG_150t1:c.199G>A	NP_000197.1:p.Val67Ile
NM_000206.3:c.199G>A MANE Select	NP_000197.1:p.Val67Ile