Canonical Allele Identifier: CA516771343
Gene: IL2RG HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.70328133G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71108283G>A , CM000685.2:g.71108283G>A GRCh38
NC_000023.10:g.70328133G>A , CM000685.1:g.70328133G>A GRCh37
NC_000023.9:g.70244858G>A NCBI36
NG_009088.1:g.8271C>T , LRG_150:g.8271C>T
NG_021141.1:g.3506C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.*38C>T ENSP00000421262.2:n.*38C>T
ENST00000696903.1:n.1221C>T
ENST00000374202.7:c.918C>T MANE Select ENSP00000363318.3:p.Asn306=
ENST00000642473.1:n.1282C>T
ENST00000644022.1:n.1184C>T
ENST00000644708.1:n.1227C>T
ENST00000644911.1:n.1324C>T
ENST00000645266.1:c.918C>T ENSP00000493734.1:p.Asn306=
ENST00000645518.1:c.918C>T ENSP00000493986.1:p.Asn306=
ENST00000646106.1:c.918C>T ENSP00000496437.1:p.Asn306=
ENST00000646505.1:c.918C>T ENSP00000496673.1:p.Asn306=
ENST00000647492.1:c.918C>T ENSP00000495340.1:p.Asn306=
ENST00000276110.6:n.1511C>T
ENST00000374188.7:c.105C>T ENSP00000363303.3:p.Asn35=
ENST00000374202.6:c.918C>T ENSP00000363318.2:p.Asn306=
ENST00000456850.6:c.348C>T ENSP00000388967.2:p.Asn116=
ENST00000482750.5:c.234C>T
ENST00000512747.3:n.1097C>T
NM_000206.2:c.918C>T , LRG_150t1:c.918C>T NP_000197.1:p.Asn306=
NM_000206.3:c.918C>T MANE Select NP_000197.1:p.Asn306=