Canonical Allele Identifier: CA2573105959
Community Standard Title: NM_020320.5(RARS2):c.795del (p.Glu265AspfsTer16)
Gene: RARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.87529626del , CM000668.2:g.87529626del GRCh38
NC_000006.11:g.88239344del , CM000668.1:g.88239344del GRCh37
NC_000006.10:g.88296063del NCBI36
NG_008601.1:g.65393del

Transcript Alleles

HGVS Amino-acid Change
NM_020320.5:c.795del MANE Select NP_064716.2:p.Glu265AspfsTer16
ENST00000369536.10:c.795del MANE Select ENSP00000358549.5:p.Glu265AspfsTer16
NM_001318785.1:c.270del NP_001305714.1:p.Glu90AspfsTer16
NM_001318785.2:c.270del NP_001305714.1:p.Glu90AspfsTer16
NM_001350505.1:c.795del NP_001337434.1:p.Glu265AspfsTer16
NM_001350505.2:c.795del NP_001337434.1:p.Glu265AspfsTer16
NM_001350506.1:c.270del NP_001337435.1:p.Glu90AspfsTer16
NM_001350506.2:c.270del NP_001337435.1:p.Glu90AspfsTer16
NM_001350507.1:c.270del NP_001337436.1:p.Glu90AspfsTer16
NM_001350507.2:c.270del NP_001337436.1:p.Glu90AspfsTer16
NM_001350508.1:c.270del NP_001337437.1:p.Glu90AspfsTer16
NM_001350508.2:c.270del NP_001337437.1:p.Glu90AspfsTer16
NM_001350509.1:c.270del NP_001337438.1:p.Glu90AspfsTer16
NM_001350509.2:c.270del NP_001337438.1:p.Glu90AspfsTer16
NM_001350510.1:c.270del NP_001337439.1:p.Glu90AspfsTer16
NM_001350510.2:c.270del NP_001337439.1:p.Glu90AspfsTer16
NM_001350511.1:c.270del NP_001337440.1:p.Glu90AspfsTer16
NM_001350511.2:c.270del NP_001337440.1:p.Glu90AspfsTer16
NM_020320.3:c.795del NP_064716.2:p.Glu265AspfsTer16
NM_020320.4:c.795del NP_064716.2:p.Glu265AspfsTer16
NR_134857.1:n.870del
NR_134857.2:n.825del
NR_146738.1:n.1138del
NR_146738.2:n.1093del
NR_146739.1:n.951del
NR_146739.2:n.906del
NR_146740.1:n.1215del
NR_146740.2:n.1170del
NR_146741.1:n.877del
NR_146741.2:n.832del
NR_146742.1:n.1253del
NR_146742.2:n.1208del
NR_146743.1:n.1091del
NR_146743.2:n.1046del
NR_146744.1:n.1215del
NR_146744.2:n.1170del
NR_146745.1:n.874del
NR_146745.2:n.829del
NR_146746.1:n.1309del
NR_146746.2:n.1264del
NR_146747.1:n.653del
NR_146747.2:n.608del
NR_146748.1:n.1091del
NR_146748.2:n.1046del
NR_146749.1:n.1091del
NR_146749.2:n.1046del
NR_146750.1:n.1215del
NR_146750.2:n.1170del
NR_146751.1:n.1091del
NR_146751.2:n.1046del
NR_146752.1:n.1159del
NR_146752.2:n.1114del
NR_146753.1:n.1007del
NR_146753.2:n.962del
NR_146754.1:n.951del
NR_146754.2:n.906del
NR_146755.1:n.1215del
NR_146755.2:n.1170del
NR_146756.1:n.870del
NR_146756.2:n.825del
NR_146757.1:n.1141del
NR_146757.2:n.1096del
NR_146758.1:n.874del
NR_146758.2:n.829del
NR_146759.1:n.874del
NR_146759.2:n.829del
ENST00000369536.9:c.795del ENSP00000358549.5:p.Glu265AspfsTer16
ENST00000451155.2:c.270del ENSP00000389656.2:p.Glu90AspfsTer16
ENST00000493269.2:n.819del
ENST00000684790.1:c.270del ENSP00000509974.1:p.Glu90AspfsTer26
ENST00000685069.1:c.-145del ENSP00000509876.1:n.-145del
ENST00000685219.1:n.831del
ENST00000685336.1:c.270del ENSP00000508757.1:p.Glu90AspfsTer16
ENST00000685376.1:c.270del ENSP00000508661.1:p.Glu90AspfsTer16
ENST00000685408.1:c.270del ENSP00000509026.1:p.Glu90AspfsTer16
ENST00000685701.1:c.-145del ENSP00000509573.1:n.-145del
ENST00000685881.1:c.270del ENSP00000510572.1:p.Glu90AspfsTer16
ENST00000686142.1:c.270del ENSP00000510793.1:p.Glu90AspfsTer16
ENST00000686154.1:c.-446del ENSP00000508436.1:n.-446del
ENST00000686196.1:n.1044del
ENST00000686284.1:c.-167del ENSP00000510099.1:n.-167del
ENST00000686371.1:n.301del
ENST00000686407.1:c.-145del ENSP00000509880.1:n.-145del
ENST00000686857.1:c.270del ENSP00000509934.1:p.Glu90AspfsTer16
ENST00000686988.1:c.893del ENSP00000508830.1:n.893del
ENST00000687078.1:n.598del
ENST00000687090.1:n.1160del
ENST00000687437.1:c.795del ENSP00000508968.1:p.Glu265AspfsTer16
ENST00000687579.1:c.246+1159del ENSP00000510257.1:n.246+1159del
ENST00000687586.1:c.-588del ENSP00000508441.1:n.-588del
ENST00000687729.1:c.270del ENSP00000508582.1:p.Glu90AspfsTer16
ENST00000687909.1:c.*301del ENSP00000508659.1:n.*301del
ENST00000688106.1:c.-167del ENSP00000509529.1:n.-167del
ENST00000688391.1:n.831del
ENST00000688532.1:c.-279del ENSP00000510320.1:n.-279del
ENST00000688842.1:n.899del
ENST00000689174.1:c.270del ENSP00000510542.1:p.Glu90AspfsTer16
ENST00000689206.1:c.-145del ENSP00000510495.1:n.-145del
ENST00000689561.1:n.1036del
ENST00000689952.1:c.*137del ENSP00000508977.1:n.*137del
ENST00000690205.1:c.*677del ENSP00000508972.1:n.*677del
ENST00000690555.1:n.831del
ENST00000690622.1:c.-145del ENSP00000508528.1:n.-145del
ENST00000690705.1:c.-145del ENSP00000509923.1:n.-145del
ENST00000690884.1:c.270del ENSP00000509931.1:p.Glu90AspfsTer16
ENST00000691205.1:n.598del
ENST00000691238.1:c.795del ENSP00000510094.1:p.Glu265AspfsTer16
ENST00000691533.1:n.831del
ENST00000691725.1:c.795del ENSP00000509453.1:p.Glu265AspfsTer16
ENST00000691815.1:c.-145del ENSP00000509579.1:n.-145del
ENST00000692270.1:c.270del ENSP00000510055.1:p.Glu90AspfsTer16
ENST00000692394.1:c.-298del ENSP00000509567.1:n.-298del
ENST00000692684.1:c.270del ENSP00000509712.1:p.Glu90AspfsTer16
ENST00000692843.1:c.795del ENSP00000509592.1:p.Glu265AspfsTer16
ENST00000692934.1:n.1022del
ENST00000693327.1:c.270del ENSP00000509195.1:p.Glu90AspfsTer16
ENST00000693431.1:c.270del ENSP00000509147.1:p.Glu90AspfsTer16
ENST00000693605.1:c.-450del ENSP00000510050.1:n.-450del
XM_005248735.3:c.270del XP_005248792.2:p.Glu90AspfsTer16
XM_005248736.3:c.270del XP_005248793.2:p.Glu90AspfsTer16
XM_005248737.3:c.270del XP_005248794.2:p.Glu90AspfsTer16
XM_011535947.1:c.795del XP_011534249.1:p.Glu265AspfsTer16
XM_011535948.1:c.795del XP_011534250.1:p.Glu265AspfsTer16
XM_011535949.1:c.795del XP_011534251.1:p.Glu265AspfsTer16
XM_011535949.3:c.795del XP_011534251.1:p.Glu265AspfsTer16
XM_011535950.1:c.270del XP_011534252.1:p.Glu90AspfsTer16
XM_011535951.1:c.270del XP_011534253.1:p.Glu90AspfsTer16
XM_011535952.1:c.-145del XP_011534254.1:n.-145del
XM_011535953.1:c.-145del XP_011534255.1:n.-145del
XM_011535954.1:c.-145del XP_011534256.1:n.-145del
XM_011535955.1:c.-145del XP_011534257.1:n.-145del
XM_017011073.1:c.270del XP_016866562.1:p.Glu90AspfsTer16
XM_017011074.2:c.270del XP_016866563.1:p.Glu90AspfsTer16
XM_017011075.2:c.270del XP_016866564.1:p.Glu90AspfsTer16
XM_017011076.2:c.270del XP_016866565.1:p.Glu90AspfsTer16
XM_017011077.2:c.270del XP_016866566.1:p.Glu90AspfsTer16
XM_017011078.2:c.270del XP_016866567.1:p.Glu90AspfsTer16
XM_024446494.1:c.270del XP_024302262.1:p.Glu90AspfsTer16
XR_001743517.2:n.834del
XR_241848.1:n.855del