Canonical Allele Identifier: CA2694022829
Gene: IL2RG HGNC NCBI

Linked Data

gnomAD v4: X-71109216-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109216G>T , CM000685.2:g.71109216G>T GRCh38
NC_000023.10:g.70329066G>T , CM000685.1:g.70329066G>T GRCh37
NC_000023.9:g.70245791G>T NCBI36
NG_009088.1:g.7338C>A , LRG_150:g.7338C>A
NG_021141.1:g.2573C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.757+12C>A ENSP00000421262.2:n.757+12C>A
ENST00000696903.1:n.808+12C>A
ENST00000374202.7:c.757+12C>A MANE Select ENSP00000363318.3:n.757+12C>A
ENST00000642473.1:n.1121+12C>A
ENST00000644022.1:n.1023+12C>A
ENST00000644708.1:n.1163+12C>A
ENST00000644911.1:n.1163+12C>A
ENST00000645266.1:c.757+12C>A ENSP00000493734.1:n.757+12C>A
ENST00000645518.1:c.757+12C>A ENSP00000493986.1:n.757+12C>A
ENST00000646106.1:c.757+12C>A ENSP00000496437.1:n.757+12C>A
ENST00000646505.1:c.757+12C>A ENSP00000496673.1:n.757+12C>A
ENST00000647492.1:c.757+12C>A ENSP00000495340.1:n.757+12C>A
ENST00000276110.6:n.1350+12C>A
ENST00000374188.7:c.41+12C>A ENSP00000363303.3:n.41+12C>A
ENST00000374202.6:c.757+12C>A ENSP00000363318.2:n.757+12C>A
ENST00000456850.6:c.187+12C>A ENSP00000388967.2:n.187+12C>A
ENST00000464642.5:c.625+12C>A ENSP00000425233.1:n.625+12C>A
ENST00000482750.5:c.170+12C>A
ENST00000512747.3:n.684+12C>A
NM_000206.2:c.757+12C>A , LRG_150t1:c.757+12C>A NP_000197.1:n.757+12C>A
NM_000206.3:c.757+12C>A MANE Select NP_000197.1:n.757+12C>A