Canonical Allele Identifier: CA413628043
Gene: IL2RG HGNC NCBI

Linked Data

ClinVar Variation Id: 2138599
ClinVar RCV Id: RCV003050620
MyVariant Identifiers: chrX:g.70327732G>A (hg19) chrX:g.71107882G>A (hg38)
ERepo: CA413628043/MONDO:0010315/129
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71107882G>A , CM000685.2:g.71107882G>A GRCh38
NC_000023.10:g.70327732G>A , CM000685.1:g.70327732G>A GRCh37
NC_000023.9:g.70244457G>A NCBI36
NG_009088.1:g.8672C>T , LRG_150:g.8672C>T
NG_021141.1:g.3907C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.*84C>T ENSP00000421262.2:n.*84C>T
ENST00000696903.1:n.1267C>T
ENST00000374202.7:c.964C>T MANE Select ENSP00000363318.3:p.Gln322Ter
ENST00000642473.1:n.1288+395C>T
ENST00000644022.1:n.1190+395C>T
ENST00000644708.1:n.1273C>T
ENST00000644911.1:n.1370C>T
ENST00000645266.1:c.924+395C>T ENSP00000493734.1:n.924+395C>T
ENST00000645518.1:c.924+395C>T ENSP00000493986.1:n.924+395C>T
ENST00000646106.1:c.964C>T ENSP00000496437.1:p.Gln322Ter
ENST00000646505.1:c.924+395C>T ENSP00000496673.1:n.924+395C>T
ENST00000647492.1:c.924+395C>T ENSP00000495340.1:n.924+395C>T
ENST00000276110.6:n.1557C>T
ENST00000374188.7:c.151C>T ENSP00000363303.3:p.Gln51Ter
ENST00000374202.6:c.964C>T ENSP00000363318.2:p.Gln322Ter
ENST00000456850.6:c.394C>T ENSP00000388967.2:p.Gln132Ter
ENST00000482750.5:c.280C>T
ENST00000512747.3:n.1498C>T
NM_000206.2:c.964C>T , LRG_150t1:c.964C>T NP_000197.1:p.Gln322Ter
NM_000206.3:c.964C>T MANE Select NP_000197.1:p.Gln322Ter
Search 100 bp 5'
Search 100 bp 3'