Canonical Allele Identifier: CA2694022861
Gene: IL2RG HGNC NCBI

Linked Data

gnomAD v4: X-71109463-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109463C>A , CM000685.2:g.71109463C>A GRCh38
NC_000023.10:g.70329313C>A , CM000685.1:g.70329313C>A GRCh37
NC_000023.9:g.70246038C>A NCBI36
NG_009088.1:g.7091G>T , LRG_150:g.7091G>T
NG_021141.1:g.2326G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.595-73G>T ENSP00000421262.2:n.595-73G>T
ENST00000696903.1:n.646-73G>T
ENST00000374202.7:c.595-73G>T MANE Select ENSP00000363318.3:n.595-73G>T
ENST00000642473.1:n.959-73G>T
ENST00000644022.1:n.861-73G>T
ENST00000644708.1:n.1001-73G>T
ENST00000644911.1:n.1001-73G>T
ENST00000645266.1:c.595-73G>T ENSP00000493734.1:n.595-73G>T
ENST00000645518.1:c.595-73G>T ENSP00000493986.1:n.595-73G>T
ENST00000646106.1:c.595-73G>T ENSP00000496437.1:n.595-73G>T
ENST00000646505.1:c.595-73G>T ENSP00000496673.1:n.595-73G>T
ENST00000647492.1:c.595-73G>T ENSP00000495340.1:n.595-73G>T
ENST00000276110.6:n.1188-73G>T
ENST00000374188.7:c.-122-73G>T ENSP00000363303.3:n.-122-73G>T
ENST00000374202.6:c.595-73G>T ENSP00000363318.2:n.595-73G>T
ENST00000456850.6:c.25-73G>T ENSP00000388967.2:n.25-73G>T
ENST00000464642.5:c.463-73G>T ENSP00000425233.1:n.463-73G>T
ENST00000482750.5:c.8-73G>T
ENST00000512747.3:n.522-73G>T
NM_000206.2:c.595-73G>T , LRG_150t1:c.595-73G>T NP_000197.1:n.595-73G>T
NM_000206.3:c.595-73G>T MANE Select NP_000197.1:n.595-73G>T