Canonical Allele Identifier: CA516818610
Gene: IL2RG HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.70330815G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110965G>C , CM000685.2:g.71110965G>C GRCh38
NC_000023.10:g.70330815G>C , CM000685.1:g.70330815G>C GRCh37
NC_000023.9:g.70247540G>C NCBI36
NG_009088.1:g.5589C>G , LRG_150:g.5589C>G
NG_021141.1:g.824C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.201C>G ENSP00000421262.2:p.Val67=
ENST00000696903.1:n.252C>G
ENST00000374202.7:c.201C>G MANE Select ENSP00000363318.3:p.Val67=
ENST00000642473.1:n.565C>G
ENST00000644022.1:n.607C>G
ENST00000644708.1:n.607C>G
ENST00000644911.1:n.607C>G
ENST00000645266.1:c.201C>G ENSP00000493734.1:p.Val67=
ENST00000645518.1:c.201C>G ENSP00000493986.1:p.Val67=
ENST00000646106.1:c.201C>G ENSP00000496437.1:p.Val67=
ENST00000646505.1:c.201C>G ENSP00000496673.1:p.Val67=
ENST00000647492.1:c.201C>G ENSP00000495340.1:p.Val67=
ENST00000276110.6:n.586C>G
ENST00000374188.7:c.-516C>G ENSP00000363303.3:n.-516C>G
ENST00000374202.6:c.201C>G ENSP00000363318.2:p.Val67=
ENST00000456850.6:c.24+460C>G ENSP00000388967.2:n.24+460C>G
ENST00000464642.5:c.69C>G ENSP00000425233.1:p.Val23=
ENST00000473378.1:c.138C>G ENSP00000423601.1:p.Val46=
ENST00000487883.1:c.165C>G ENSP00000423966.1:p.Val55=
ENST00000512747.3:n.268C>G
NM_000206.2:c.201C>G , LRG_150t1:c.201C>G NP_000197.1:p.Val67=
NM_000206.3:c.201C>G MANE Select NP_000197.1:p.Val67=