Canonical Allele Identifier: CA516818585
Gene: IL2RG HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.70330511G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110661G>T , CM000685.2:g.71110661G>T GRCh38
NC_000023.10:g.70330511G>T , CM000685.1:g.70330511G>T GRCh37
NC_000023.9:g.70247236G>T NCBI36
NG_009088.1:g.5893C>A , LRG_150:g.5893C>A
NG_021141.1:g.1128C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.297C>A ENSP00000421262.2:p.Val99=
ENST00000696903.1:n.348C>A
ENST00000374202.7:c.297C>A MANE Select ENSP00000363318.3:p.Val99=
ENST00000642473.1:n.661C>A
ENST00000644022.1:n.703C>A
ENST00000644708.1:n.703C>A
ENST00000644911.1:n.703C>A
ENST00000645266.1:c.297C>A ENSP00000493734.1:p.Val99=
ENST00000645518.1:c.297C>A ENSP00000493986.1:p.Val99=
ENST00000646106.1:c.297C>A ENSP00000496437.1:p.Val99=
ENST00000646505.1:c.297C>A ENSP00000496673.1:p.Val99=
ENST00000647492.1:c.297C>A ENSP00000495340.1:p.Val99=
ENST00000276110.6:n.682C>A
ENST00000374188.7:c.-420C>A ENSP00000363303.3:n.-420C>A
ENST00000374202.6:c.297C>A ENSP00000363318.2:p.Val99=
ENST00000456850.6:c.24+764C>A ENSP00000388967.2:n.24+764C>A
ENST00000464642.5:c.165C>A ENSP00000425233.1:p.Val55=
ENST00000473378.1:c.234C>A ENSP00000423601.1:p.Val78=
ENST00000487883.1:c.261C>A ENSP00000423966.1:p.Val87=
ENST00000512747.3:n.364C>A
NM_000206.2:c.297C>A , LRG_150t1:c.297C>A NP_000197.1:p.Val99=
NM_000206.3:c.297C>A MANE Select NP_000197.1:p.Val99=