Canonical Allele Identifier: CA2694023059
Gene: IL2RG HGNC NCBI

Linked Data

gnomAD v4: X-71110726-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71110726G>A , CM000685.2:g.71110726G>A GRCh38
NC_000023.10:g.70330576G>A , CM000685.1:g.70330576G>A GRCh37
NC_000023.9:g.70247301G>A NCBI36
NG_009088.1:g.5828C>T , LRG_150:g.5828C>T
NG_021141.1:g.1063C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482750.6:c.270-38C>T ENSP00000421262.2:n.270-38C>T
ENST00000696903.1:n.321-38C>T
ENST00000374202.7:c.270-38C>T MANE Select ENSP00000363318.3:n.270-38C>T
ENST00000642473.1:n.634-38C>T
ENST00000644022.1:n.676-38C>T
ENST00000644708.1:n.676-38C>T
ENST00000644911.1:n.676-38C>T
ENST00000645266.1:c.270-38C>T ENSP00000493734.1:n.270-38C>T
ENST00000645518.1:c.270-38C>T ENSP00000493986.1:n.270-38C>T
ENST00000646106.1:c.270-38C>T ENSP00000496437.1:n.270-38C>T
ENST00000646505.1:c.270-38C>T ENSP00000496673.1:n.270-38C>T
ENST00000647492.1:c.270-38C>T ENSP00000495340.1:n.270-38C>T
ENST00000276110.6:n.655-38C>T
ENST00000374188.7:c.-447-38C>T ENSP00000363303.3:n.-447-38C>T
ENST00000374202.6:c.270-38C>T ENSP00000363318.2:n.270-38C>T
ENST00000456850.6:c.24+699C>T ENSP00000388967.2:n.24+699C>T
ENST00000464642.5:c.138-38C>T ENSP00000425233.1:n.138-38C>T
ENST00000473378.1:c.207-38C>T ENSP00000423601.1:n.207-38C>T
ENST00000487883.1:c.234-38C>T ENSP00000423966.1:n.234-38C>T
ENST00000512747.3:n.337-38C>T
NM_000206.2:c.270-38C>T , LRG_150t1:c.270-38C>T NP_000197.1:n.270-38C>T
NM_000206.3:c.270-38C>T MANE Select NP_000197.1:n.270-38C>T