Canonical Allele Identifier: CA2570892070
Community Standard Title: NM_000206.3(IL2RG):c.757+130C>G
Gene: IL2RG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109098G>C , CM000685.2:g.71109098G>C GRCh38
NC_000023.10:g.70328948G>C , CM000685.1:g.70328948G>C GRCh37
NC_000023.9:g.70245673G>C NCBI36
NG_009088.1:g.7456C>G , LRG_150:g.7456C>G
NG_021141.1:g.2691C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000206.3:c.757+130C>G MANE Select NP_000197.1:n.757+130C>G
ENST00000374202.7:c.757+130C>G MANE Select ENSP00000363318.3:n.757+130C>G
NM_000206.2:c.757+130C>G , LRG_150t1:c.757+130C>G NP_000197.1:n.757+130C>G
ENST00000276110.6:n.1350+130C>G
ENST00000374188.7:c.41+130C>G ENSP00000363303.3:n.41+130C>G
ENST00000374202.6:c.757+130C>G ENSP00000363318.2:n.757+130C>G
ENST00000456850.6:c.187+130C>G ENSP00000388967.2:n.187+130C>G
ENST00000464642.5:c.625+130C>G ENSP00000425233.1:n.625+130C>G
ENST00000482750.5:c.170+130C>G
ENST00000482750.6:c.757+130C>G ENSP00000421262.2:n.757+130C>G
ENST00000512747.3:n.684+130C>G
ENST00000642473.1:n.1121+130C>G
ENST00000644022.1:n.1023+130C>G
ENST00000644708.1:n.1163+130C>G
ENST00000644911.1:n.1163+130C>G
ENST00000645266.1:c.757+130C>G ENSP00000493734.1:n.757+130C>G
ENST00000645518.1:c.757+130C>G ENSP00000493986.1:n.757+130C>G
ENST00000646106.1:c.757+130C>G ENSP00000496437.1:n.757+130C>G
ENST00000646505.1:c.757+130C>G ENSP00000496673.1:n.757+130C>G
ENST00000647492.1:c.757+130C>G ENSP00000495340.1:n.757+130C>G
ENST00000696903.1:n.808+130C>G
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