Canonical Allele Identifier: CA2694022769
Community Standard Title: NM_000206.3(IL2RG):c.757+124G>T
Gene: IL2RG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71109104C>A , CM000685.2:g.71109104C>A GRCh38
NC_000023.10:g.70328954C>A , CM000685.1:g.70328954C>A GRCh37
NC_000023.9:g.70245679C>A NCBI36
NG_009088.1:g.7450G>T , LRG_150:g.7450G>T
NG_021141.1:g.2685G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000206.3:c.757+124G>T MANE Select NP_000197.1:n.757+124G>T
ENST00000374202.7:c.757+124G>T MANE Select ENSP00000363318.3:n.757+124G>T
NM_000206.2:c.757+124G>T , LRG_150t1:c.757+124G>T NP_000197.1:n.757+124G>T
ENST00000276110.6:n.1350+124G>T
ENST00000374188.7:c.41+124G>T ENSP00000363303.3:n.41+124G>T
ENST00000374202.6:c.757+124G>T ENSP00000363318.2:n.757+124G>T
ENST00000456850.6:c.187+124G>T ENSP00000388967.2:n.187+124G>T
ENST00000464642.5:c.625+124G>T ENSP00000425233.1:n.625+124G>T
ENST00000482750.5:c.170+124G>T
ENST00000482750.6:c.757+124G>T ENSP00000421262.2:n.757+124G>T
ENST00000512747.3:n.684+124G>T
ENST00000642473.1:n.1121+124G>T
ENST00000644022.1:n.1023+124G>T
ENST00000644708.1:n.1163+124G>T
ENST00000644911.1:n.1163+124G>T
ENST00000645266.1:c.757+124G>T ENSP00000493734.1:n.757+124G>T
ENST00000645518.1:c.757+124G>T ENSP00000493986.1:n.757+124G>T
ENST00000646106.1:c.757+124G>T ENSP00000496437.1:n.757+124G>T
ENST00000646505.1:c.757+124G>T ENSP00000496673.1:n.757+124G>T
ENST00000647492.1:c.757+124G>T ENSP00000495340.1:n.757+124G>T
ENST00000696903.1:n.808+124G>T
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