Canonical Allele Identifier: CA2499218593
Gene: RARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1068541
ClinVar RCV Id: RCV001380143
dbSNP Id: rs2128000506

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.87518669dup , CM000668.2:g.87518669dup GRCh38
NC_000006.11:g.88228387dup , CM000668.1:g.88228387dup GRCh37
NC_000006.10:g.88285106dup NCBI36
NG_008601.1:g.76349dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000451155.2:c.851dup ENSP00000389656.2:p.Gly285ArgfsTer25
ENST00000493269.2:n.1396dup
ENST00000497828.2:n.3571dup
ENST00000684790.1:c.*382dup ENSP00000509974.1:n.*382dup
ENST00000685069.1:c.437dup ENSP00000509876.1:p.Gly147ArgfsTer?
ENST00000685219.1:n.1412dup
ENST00000685336.1:c.*799dup ENSP00000508757.1:n.*799dup
ENST00000685376.1:c.*498dup ENSP00000508661.1:n.*498dup
ENST00000685408.1:c.851dup ENSP00000509026.1:p.Gly285ArgfsTer25
ENST00000685701.1:c.437dup ENSP00000509573.1:p.Gly147ArgfsTer25
ENST00000685881.1:c.851dup ENSP00000510572.1:p.Gly285ArgfsTer?
ENST00000686142.1:c.851dup ENSP00000510793.1:p.Gly285ArgfsTer?
ENST00000686154.1:c.437dup ENSP00000508436.1:p.Gly147ArgfsTer25
ENST00000686196.1:n.1621dup
ENST00000686284.1:c.437dup ENSP00000510099.1:p.Gly147ArgfsTer25
ENST00000686371.1:n.878dup
ENST00000686407.1:c.437dup ENSP00000509880.1:p.Gly147ArgfsTer25
ENST00000686857.1:c.*292dup ENSP00000509934.1:n.*292dup
ENST00000686988.1:c.1474dup ENSP00000508830.1:n.1474dup
ENST00000687090.1:n.1741dup
ENST00000687437.1:c.1376dup ENSP00000508968.1:p.Gly460ArgfsTer25
ENST00000687579.1:c.*422dup ENSP00000510257.1:n.*422dup
ENST00000687586.1:c.299dup ENSP00000508441.1:p.Gly101ArgfsTer25
ENST00000687729.1:c.794dup ENSP00000508582.1:p.Gly266ArgfsTer25
ENST00000687909.1:c.*786dup ENSP00000508659.1:n.*786dup
ENST00000688106.1:c.437dup ENSP00000509529.1:p.Gly147ArgfsTer?
ENST00000688391.1:n.1884dup
ENST00000688532.1:c.299dup ENSP00000510320.1:p.Gly101ArgfsTer25
ENST00000688808.1:n.1882dup
ENST00000688842.1:n.3850dup
ENST00000689174.1:c.851dup ENSP00000510542.1:p.Gly285ArgfsTer25
ENST00000689206.1:c.437dup ENSP00000510495.1:p.Gly147ArgfsTer25
ENST00000689561.1:n.2392dup
ENST00000689594.1:n.2368dup
ENST00000689952.1:c.*714dup ENSP00000508977.1:n.*714dup
ENST00000690205.1:c.*1254dup ENSP00000508972.1:n.*1254dup
ENST00000690622.1:c.437dup ENSP00000508528.1:p.Gly147ArgfsTer25
ENST00000690705.1:c.*292dup ENSP00000509923.1:n.*292dup
ENST00000690884.1:c.*292dup ENSP00000509931.1:n.*292dup
ENST00000691205.1:n.2342dup
ENST00000691238.1:c.*498dup ENSP00000510094.1:n.*498dup
ENST00000691533.1:n.1412dup
ENST00000691634.1:n.1257dup
ENST00000691725.1:c.1376dup ENSP00000509453.1:p.Gly460ArgfsTer25
ENST00000691815.1:c.*292dup ENSP00000509579.1:n.*292dup
ENST00000692270.1:c.*292dup ENSP00000510055.1:n.*292dup
ENST00000692394.1:c.155dup ENSP00000509567.1:p.Gly53ArgfsTer25
ENST00000692684.1:c.851dup ENSP00000509712.1:p.Gly285ArgfsTer25
ENST00000692843.1:c.*363dup ENSP00000509592.1:n.*363dup
ENST00000693327.1:c.851dup ENSP00000509195.1:p.Gly285ArgfsTer25
ENST00000693431.1:c.851dup ENSP00000509147.1:p.Gly285ArgfsTer25
ENST00000693605.1:c.*292dup ENSP00000510050.1:n.*292dup
ENST00000369536.10:c.1376dup MANE Select ENSP00000358549.5:p.Gly460ArgfsTer25
ENST00000369536.9:c.1376dup ENSP00000358549.5:p.Gly460ArgfsTer25
ENST00000497828.1:n.479dup
NM_020320.3:c.1376dup NP_064716.2:p.Gly460ArgfsTer25
XM_005248735.3:c.851dup XP_005248792.2:p.Gly285ArgfsTer25
XM_005248736.3:c.851dup XP_005248793.2:p.Gly285ArgfsTer25
XM_005248737.3:c.851dup XP_005248794.2:p.Gly285ArgfsTer25
XM_011535947.1:c.1376dup XP_011534249.1:p.Gly460ArgfsTer25
XM_011535948.1:c.1376dup XP_011534250.1:p.Gly460ArgfsTer25
XM_011535949.1:c.1376dup XP_011534251.1:p.Gly460ArgfsTer?
XM_011535950.1:c.851dup XP_011534252.1:p.Gly285ArgfsTer25
XM_011535951.1:c.851dup XP_011534253.1:p.Gly285ArgfsTer25
XM_011535952.1:c.437dup XP_011534254.1:p.Gly147ArgfsTer25
XM_011535953.1:c.437dup XP_011534255.1:p.Gly147ArgfsTer25
XM_011535954.1:c.437dup XP_011534256.1:p.Gly147ArgfsTer25
XM_011535955.1:c.437dup XP_011534257.1:p.Gly147ArgfsTer25
XR_241848.1:n.1432dup
NM_001318785.1:c.851dup NP_001305714.1:p.Gly285ArgfsTer25
NM_001350505.1:c.1376dup NP_001337434.1:p.Gly460ArgfsTer25
NM_001350506.1:c.851dup NP_001337435.1:p.Gly285ArgfsTer25
NM_001350507.1:c.851dup NP_001337436.1:p.Gly285ArgfsTer25
NM_001350508.1:c.851dup NP_001337437.1:p.Gly285ArgfsTer25
NM_001350509.1:c.851dup NP_001337438.1:p.Gly285ArgfsTer25
NM_001350510.1:c.851dup NP_001337439.1:p.Gly285ArgfsTer25
NM_001350511.1:c.851dup NP_001337440.1:p.Gly285ArgfsTer25
NM_020320.4:c.1376dup NP_064716.2:p.Gly460ArgfsTer25
NR_134857.1:n.1447dup
NR_146738.1:n.1719dup
NR_146739.1:n.1528dup
NR_146740.1:n.1796dup
NR_146741.1:n.1458dup
NR_146742.1:n.1830dup
NR_146743.1:n.1668dup
NR_146744.1:n.1796dup
NR_146745.1:n.1455dup
NR_146746.1:n.1890dup
NR_146747.1:n.1234dup
NR_146748.1:n.1694dup
NR_146749.1:n.1668dup
NR_146750.1:n.1792dup
NR_146751.1:n.1672dup
NR_146752.1:n.1736dup
NR_146753.1:n.1588dup
NR_146754.1:n.1532dup
NR_146755.1:n.1796dup
NR_146756.1:n.1451dup
NR_146757.1:n.1722dup
NR_146758.1:n.1451dup
NR_146759.1:n.1451dup
XM_011535949.3:c.1376dup XP_011534251.1:p.Gly460ArgfsTer?
XM_017011073.1:c.851dup XP_016866562.1:p.Gly285ArgfsTer25
XM_017011074.2:c.851dup XP_016866563.1:p.Gly285ArgfsTer25
XM_017011075.2:c.851dup XP_016866564.1:p.Gly285ArgfsTer25
XM_017011076.2:c.851dup XP_016866565.1:p.Gly285ArgfsTer25
XM_017011077.2:c.851dup XP_016866566.1:p.Gly285ArgfsTer25
XM_017011078.2:c.851dup XP_016866567.1:p.Gly285ArgfsTer25
XM_024446494.1:c.851dup XP_024302262.1:p.Gly285ArgfsTer25
NM_020320.5:c.1376dup MANE Select NP_064716.2:p.Gly460ArgfsTer25
NM_001318785.2:c.851dup NP_001305714.1:p.Gly285ArgfsTer25
NM_001350505.2:c.1376dup NP_001337434.1:p.Gly460ArgfsTer25
NM_001350506.2:c.851dup NP_001337435.1:p.Gly285ArgfsTer25
NM_001350507.2:c.851dup NP_001337436.1:p.Gly285ArgfsTer25
NM_001350508.2:c.851dup NP_001337437.1:p.Gly285ArgfsTer25
NM_001350509.2:c.851dup NP_001337438.1:p.Gly285ArgfsTer25
NM_001350510.2:c.851dup NP_001337439.1:p.Gly285ArgfsTer25
NM_001350511.2:c.851dup NP_001337440.1:p.Gly285ArgfsTer25
NR_134857.2:n.1402dup
NR_146738.2:n.1674dup
NR_146739.2:n.1483dup
NR_146740.2:n.1751dup
NR_146741.2:n.1413dup
NR_146742.2:n.1785dup
NR_146743.2:n.1623dup
NR_146744.2:n.1751dup
NR_146745.2:n.1410dup
NR_146746.2:n.1845dup
NR_146747.2:n.1189dup
NR_146748.2:n.1649dup
NR_146749.2:n.1623dup
NR_146750.2:n.1747dup
NR_146751.2:n.1627dup
NR_146752.2:n.1691dup
NR_146753.2:n.1543dup
NR_146754.2:n.1487dup
NR_146755.2:n.1751dup
NR_146756.2:n.1406dup
NR_146757.2:n.1677dup
NR_146758.2:n.1406dup
NR_146759.2:n.1406dup