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LOVD - Variant listings for IL2RG

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96 entries
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DNA change   Descending
Ascending
Protein Hide Protein column Descending
Ascending
dbSNP ID Hide dbSNP ID column Descending
Ascending
p.His242_Pro243insHis -
chrX:70245909G>T p.K217N rs52802233
chrX:70247208A>G p.E109K rs17875899
chrX:70247611A>T p.T44S rs7885041
c.1A>G p.M1V -
c.3G>A p.M1I -
c.184T>G p.C62G -
c.186T>A p.C62X -
c.196A>C p.N66H -
c.197A>T p.N66I -
c.202G>A p.E68K -
c.203A>G p.E68G -
c.207C>A p.Y69X -
c.220T>G p.W74G -
c.222G>C p.W74C -
c.241C>T p.Q81X -
c.252C>G p.N84K -
c.266A>G p.Y89C -
c.269G>A p.W90X -
c.272A>G p.Y91C -
c.273C>A p.Y91X -
c.292A>G p.K98E -
c.292A>T p.K98X -
c.305G>A p.C102Y -
c.314A>G p.Y105C -
c.315T>A p.Y105X -
c.322T>C p.S108P -
c.328G>T p.E110X -
c.341G>A p.G114D -
c.343T>C p.C115R -
c.346C>T p.Q116X -
c.352C>T p.Q118X -
c.355A>T p.K119X -
c.368A>C p.H123P -
c.373T>A p.Y125N -
c.374A>G p.Y125C -
c.376C>T p.Q126X -
c.391C>T p.Q131X -
c.392A>C p.Q131P -
c.394C>T p.L132F -
c.397C>T p.Q133X -
c.407G>C p.R136P -
c.421C>T p.Q141X -
c.430C>T p.Q144X -
c.431A>C p.Q144P -
c.437T>C p.L146P -
c.452T>C p.L151P -
c.455T>C p.V152A -
c.458T>A p.I153N -
c.467C>T p.A156V -
c.469C>T p.P157S -
c.485T>A p.L162H -
c.485T>G p.L162R -
c.515T>A p.L172Q -
c.515T>C p.L172P -
c.521G>A p.W174X -
c.522G>A p.W174X -
c.544T>C p.C182R -
c.545G>A p.C182Y -
c.548T>C p.L183S -
c.550G>T p.E184X -
c.554A>G p.H185R -
c.562C>T p.Q188X -
c.567C>A p.Y189X -
c.579G>A p.W193X -
c.590G>A p.W197X -
c.602C>G p.S201X -
c.619A>T p.K207X -
c.646C>T p.Q216X -
c.664C>T p.R222C -
c.670C>T p.R224W -
c.676C>T p.R226C -
c.677G>A p.R226H -
c.680T>G p.F227C -
c.689T>C p.L230P -
c.691T>C p.C231R -
c.692G>A p.C231Y -
c.694G>C p.G232R -
c.703C>T p.Q235X -
c.709T>C p.W237R -
c.718T>C p.W240R -
c.720G>C p.W240C -
c.722G>T p.S241I -
c.737G>A p.W246X -
c.738G>A p.W246X -
c.802G>C p.G268R -
c.809T>G p.M270R -
c.812G>A p.G271E -
c.834T>G p.C278W -
c.854G>A p.R285Q -
c.865C>T p.R289X -
c.878T>A p.L293Q -
c.909C>A p.Y303X -
c.923C>A p.S308X -
c.964C>T p.Q322X -
c.975C>G p.Y325X -
1 - 96

Legend: [ IL2RG full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
DNA change: Variation at DNA-level to coding DNA Reference Sequence. ex: c.7C>T, c.-15T>A, c.77+1G>A, 78-1G>A, c.*2T>A Protein: Variation at protein level. dbSNP ID: rs#

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