Canonical Allele Identifier: CA829280793
Community Standard Title: NM_020320.5(RARS2):c.826_842dup (p.Lys281AsnfsTer6)
Gene: RARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.87529581_87529597dup , CM000668.2:g.87529581_87529597dup GRCh38
NC_000006.11:g.88239299_88239315dup , CM000668.1:g.88239299_88239315dup GRCh37
NC_000006.10:g.88296018_88296034dup NCBI36
NG_008601.1:g.65424_65440dup

Transcript Alleles

HGVS Amino-acid Change
NM_020320.5:c.826_842dup MANE Select NP_064716.2:p.Lys281AsnfsTer6
ENST00000369536.10:c.826_842dup MANE Select ENSP00000358549.5:p.Lys281AsnfsTer6
NM_001318785.1:c.301_317dup NP_001305714.1:p.Lys106AsnfsTer6
NM_001318785.2:c.301_317dup NP_001305714.1:p.Lys106AsnfsTer6
NM_001350505.1:c.826_842dup NP_001337434.1:p.Lys281AsnfsTer6
NM_001350505.2:c.826_842dup NP_001337434.1:p.Lys281AsnfsTer6
NM_001350506.1:c.301_317dup NP_001337435.1:p.Lys106AsnfsTer6
NM_001350506.2:c.301_317dup NP_001337435.1:p.Lys106AsnfsTer6
NM_001350507.1:c.301_317dup NP_001337436.1:p.Lys106AsnfsTer6
NM_001350507.2:c.301_317dup NP_001337436.1:p.Lys106AsnfsTer6
NM_001350508.1:c.301_317dup NP_001337437.1:p.Lys106AsnfsTer6
NM_001350508.2:c.301_317dup NP_001337437.1:p.Lys106AsnfsTer6
NM_001350509.1:c.301_317dup NP_001337438.1:p.Lys106AsnfsTer6
NM_001350509.2:c.301_317dup NP_001337438.1:p.Lys106AsnfsTer6
NM_001350510.1:c.301_317dup NP_001337439.1:p.Lys106AsnfsTer6
NM_001350510.2:c.301_317dup NP_001337439.1:p.Lys106AsnfsTer6
NM_001350511.1:c.301_317dup NP_001337440.1:p.Lys106AsnfsTer6
NM_001350511.2:c.301_317dup NP_001337440.1:p.Lys106AsnfsTer6
NM_020320.3:c.826_842dup NP_064716.2:p.Lys281AsnfsTer6
NM_020320.4:c.826_842dup NP_064716.2:p.Lys281AsnfsTer6
NR_134857.1:n.901_917dup
NR_134857.2:n.856_872dup
NR_146738.1:n.1169_1185dup
NR_146738.2:n.1124_1140dup
NR_146739.1:n.982_998dup
NR_146739.2:n.937_953dup
NR_146740.1:n.1246_1262dup
NR_146740.2:n.1201_1217dup
NR_146741.1:n.908_924dup
NR_146741.2:n.863_879dup
NR_146742.1:n.1284_1300dup
NR_146742.2:n.1239_1255dup
NR_146743.1:n.1122_1138dup
NR_146743.2:n.1077_1093dup
NR_146744.1:n.1246_1262dup
NR_146744.2:n.1201_1217dup
NR_146745.1:n.905_921dup
NR_146745.2:n.860_876dup
NR_146746.1:n.1340_1356dup
NR_146746.2:n.1295_1311dup
NR_146747.1:n.684_700dup
NR_146747.2:n.639_655dup
NR_146748.1:n.1122_1138dup
NR_146748.2:n.1077_1093dup
NR_146749.1:n.1122_1138dup
NR_146749.2:n.1077_1093dup
NR_146750.1:n.1246_1262dup
NR_146750.2:n.1201_1217dup
NR_146751.1:n.1122_1138dup
NR_146751.2:n.1077_1093dup
NR_146752.1:n.1190_1206dup
NR_146752.2:n.1145_1161dup
NR_146753.1:n.1038_1054dup
NR_146753.2:n.993_1009dup
NR_146754.1:n.982_998dup
NR_146754.2:n.937_953dup
NR_146755.1:n.1246_1262dup
NR_146755.2:n.1201_1217dup
NR_146756.1:n.901_917dup
NR_146756.2:n.856_872dup
NR_146757.1:n.1172_1188dup
NR_146757.2:n.1127_1143dup
NR_146758.1:n.905_921dup
NR_146758.2:n.860_876dup
NR_146759.1:n.905_921dup
NR_146759.2:n.860_876dup
ENST00000369536.9:c.826_842dup ENSP00000358549.5:p.Lys281AsnfsTer6
ENST00000451155.2:c.301_317dup ENSP00000389656.2:p.Lys106AsnfsTer6
ENST00000493269.2:n.850_866dup
ENST00000684790.1:c.301_309+8dup
ENST00000685069.1:c.-114_-98dup ENSP00000509876.1:n.-114_-98dup
ENST00000685219.1:n.862_878dup
ENST00000685336.1:c.301_317dup ENSP00000508757.1:p.Lys106AsnfsTer6
ENST00000685376.1:c.301_317dup ENSP00000508661.1:p.Lys106AsnfsTer6
ENST00000685408.1:c.301_317dup ENSP00000509026.1:p.Lys106AsnfsTer6
ENST00000685701.1:c.-114_-98dup ENSP00000509573.1:n.-114_-98dup
ENST00000685881.1:c.301_317dup ENSP00000510572.1:p.Lys106AsnfsTer6
ENST00000686142.1:c.301_317dup ENSP00000510793.1:p.Lys106AsnfsTer6
ENST00000686154.1:c.-415_-399dup ENSP00000508436.1:n.-415_-399dup
ENST00000686196.1:n.1075_1091dup
ENST00000686284.1:c.-136_-120dup ENSP00000510099.1:n.-136_-120dup
ENST00000686371.1:n.332_348dup
ENST00000686407.1:c.-114_-98dup ENSP00000509880.1:n.-114_-98dup
ENST00000686857.1:c.301_317dup ENSP00000509934.1:p.Lys106AsnfsTer6
ENST00000686988.1:c.924_940dup ENSP00000508830.1:n.924_940dup
ENST00000687078.1:n.629_645dup
ENST00000687090.1:n.1191_1207dup
ENST00000687437.1:c.826_842dup ENSP00000508968.1:p.Lys281AsnfsTer6
ENST00000687579.1:c.246+1190_246+1206dup ENSP00000510257.1:n.246+1190_246+1206dup
ENST00000687586.1:c.-557_-541dup ENSP00000508441.1:n.-557_-541dup
ENST00000687729.1:c.301_317dup ENSP00000508582.1:p.Lys106AsnfsTer6
ENST00000687909.1:c.*332_*348dup ENSP00000508659.1:n.*332_*348dup
ENST00000688106.1:c.-136_-120dup ENSP00000509529.1:n.-136_-120dup
ENST00000688391.1:n.862_878dup
ENST00000688532.1:c.-248_-232dup ENSP00000510320.1:n.-248_-232dup
ENST00000688842.1:n.930_946dup
ENST00000689174.1:c.301_317dup ENSP00000510542.1:p.Lys106AsnfsTer6
ENST00000689206.1:c.-114_-98dup ENSP00000510495.1:n.-114_-98dup
ENST00000689561.1:n.1067_1083dup
ENST00000689952.1:c.*168_*184dup ENSP00000508977.1:n.*168_*184dup
ENST00000690205.1:c.*708_*724dup ENSP00000508972.1:n.*708_*724dup
ENST00000690555.1:n.862_878dup
ENST00000690622.1:c.-114_-98dup ENSP00000508528.1:n.-114_-98dup
ENST00000690705.1:c.-114_-98dup ENSP00000509923.1:n.-114_-98dup
ENST00000690884.1:c.301_317dup ENSP00000509931.1:p.Lys106AsnfsTer6
ENST00000691205.1:n.629_645dup
ENST00000691238.1:c.826_842dup ENSP00000510094.1:p.Lys281AsnfsTer6
ENST00000691533.1:n.862_878dup
ENST00000691725.1:c.826_842dup ENSP00000509453.1:p.Lys281AsnfsTer6
ENST00000691815.1:c.-114_-98dup ENSP00000509579.1:n.-114_-98dup
ENST00000692270.1:c.301_317dup ENSP00000510055.1:p.Lys106AsnfsTer6
ENST00000692394.1:c.-267_-251dup ENSP00000509567.1:n.-267_-251dup
ENST00000692684.1:c.301_317dup ENSP00000509712.1:p.Lys106AsnfsTer6
ENST00000692843.1:c.826_842dup ENSP00000509592.1:p.Lys281AsnfsTer6
ENST00000692934.1:n.1053_1069dup
ENST00000693327.1:c.301_317dup ENSP00000509195.1:p.Lys106AsnfsTer6
ENST00000693431.1:c.301_317dup ENSP00000509147.1:p.Lys106AsnfsTer6
ENST00000693605.1:c.-419_-403dup ENSP00000510050.1:n.-419_-403dup
XM_005248735.3:c.301_317dup XP_005248792.2:p.Lys106AsnfsTer6
XM_005248736.3:c.301_317dup XP_005248793.2:p.Lys106AsnfsTer6
XM_005248737.3:c.301_317dup XP_005248794.2:p.Lys106AsnfsTer6
XM_011535947.1:c.826_842dup XP_011534249.1:p.Lys281AsnfsTer6
XM_011535948.1:c.826_842dup XP_011534250.1:p.Lys281AsnfsTer6
XM_011535949.1:c.826_842dup XP_011534251.1:p.Lys281AsnfsTer6
XM_011535949.3:c.826_842dup XP_011534251.1:p.Lys281AsnfsTer6
XM_011535950.1:c.301_317dup XP_011534252.1:p.Lys106AsnfsTer6
XM_011535951.1:c.301_317dup XP_011534253.1:p.Lys106AsnfsTer6
XM_011535952.1:c.-114_-98dup XP_011534254.1:n.-114_-98dup
XM_011535953.1:c.-114_-98dup XP_011534255.1:n.-114_-98dup
XM_011535954.1:c.-114_-98dup XP_011534256.1:n.-114_-98dup
XM_011535955.1:c.-114_-98dup XP_011534257.1:n.-114_-98dup
XM_017011073.1:c.301_317dup XP_016866562.1:p.Lys106AsnfsTer6
XM_017011074.2:c.301_317dup XP_016866563.1:p.Lys106AsnfsTer6
XM_017011075.2:c.301_317dup XP_016866564.1:p.Lys106AsnfsTer6
XM_017011076.2:c.301_317dup XP_016866565.1:p.Lys106AsnfsTer6
XM_017011077.2:c.301_317dup XP_016866566.1:p.Lys106AsnfsTer6
XM_017011078.2:c.301_317dup XP_016866567.1:p.Lys106AsnfsTer6
XM_024446494.1:c.301_317dup XP_024302262.1:p.Lys106AsnfsTer6
XR_001743517.2:n.865_881dup
XR_241848.1:n.886_902dup