Canonical Allele Identifier: CA364922515

Gene: RARS2

Linked Data

• MyVariant Identifiers: chr6:g.88228418A>G (hg19) ; chr6:g.87518700A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.87518700A>G , CM000668.2:g.87518700A>G	GRCh38
NC_000006.11:g.88228418A>G , CM000668.1:g.88228418A>G	GRCh37
NC_000006.10:g.88285137A>G	NCBI36
NG_008601.1:g.76318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000451155.2:c.820T>C	ENSP00000389656.2:p.Trp274Arg
ENST00000493269.2:n.1365T>C
ENST00000497828.2:n.3540T>C
ENST00000684790.1:c.*351T>C	ENSP00000509974.1:n.*351T>C
ENST00000685069.1:c.406T>C	ENSP00000509876.1:p.Trp136Arg
ENST00000685219.1:n.1381T>C
ENST00000685336.1:c.*768T>C	ENSP00000508757.1:n.*768T>C
ENST00000685376.1:c.*467T>C	ENSP00000508661.1:n.*467T>C
ENST00000685408.1:c.820T>C	ENSP00000509026.1:p.Trp274Arg
ENST00000685701.1:c.406T>C	ENSP00000509573.1:p.Trp136Arg
ENST00000685881.1:c.820T>C	ENSP00000510572.1:p.Trp274Arg
ENST00000686142.1:c.820T>C	ENSP00000510793.1:p.Trp274Arg
ENST00000686154.1:c.406T>C	ENSP00000508436.1:p.Trp136Arg
ENST00000686196.1:n.1590T>C
ENST00000686284.1:c.406T>C	ENSP00000510099.1:p.Trp136Arg
ENST00000686371.1:n.847T>C
ENST00000686407.1:c.406T>C	ENSP00000509880.1:p.Trp136Arg
ENST00000686857.1:c.*261T>C	ENSP00000509934.1:n.*261T>C
ENST00000686988.1:c.1443T>C	ENSP00000508830.1:n.1443T>C
ENST00000687090.1:n.1710T>C
ENST00000687437.1:c.1345T>C	ENSP00000508968.1:p.Trp449Arg
ENST00000687579.1:c.*391T>C	ENSP00000510257.1:n.*391T>C
ENST00000687586.1:c.268T>C	ENSP00000508441.1:p.Trp90Arg
ENST00000687729.1:c.781-18T>C	ENSP00000508582.1:n.781-18T>C
ENST00000687909.1:c.*755T>C	ENSP00000508659.1:n.*755T>C
ENST00000688106.1:c.406T>C	ENSP00000509529.1:p.Trp136Arg
ENST00000688391.1:n.1853T>C
ENST00000688532.1:c.268T>C	ENSP00000510320.1:p.Trp90Arg
ENST00000688808.1:n.1851T>C
ENST00000688842.1:n.3819T>C
ENST00000689174.1:c.820T>C	ENSP00000510542.1:p.Trp274Arg
ENST00000689206.1:c.406T>C	ENSP00000510495.1:p.Trp136Arg
ENST00000689561.1:n.2361T>C
ENST00000689594.1:n.2337T>C
ENST00000689952.1:c.*683T>C	ENSP00000508977.1:n.*683T>C
ENST00000690205.1:c.*1223T>C	ENSP00000508972.1:n.*1223T>C
ENST00000690622.1:c.406T>C	ENSP00000508528.1:p.Trp136Arg
ENST00000690705.1:c.*261T>C	ENSP00000509923.1:n.*261T>C
ENST00000690884.1:c.*261T>C	ENSP00000509931.1:n.*261T>C
ENST00000691205.1:n.2311T>C
ENST00000691238.1:c.*467T>C	ENSP00000510094.1:n.*467T>C
ENST00000691533.1:n.1381T>C
ENST00000691634.1:n.1226T>C
ENST00000691725.1:c.1345T>C	ENSP00000509453.1:p.Trp449Arg
ENST00000691815.1:c.*261T>C	ENSP00000509579.1:n.*261T>C
ENST00000692270.1:c.*261T>C	ENSP00000510055.1:n.*261T>C
ENST00000692394.1:c.124T>C	ENSP00000509567.1:p.Trp42Arg
ENST00000692684.1:c.820T>C	ENSP00000509712.1:p.Trp274Arg
ENST00000692843.1:c.*332T>C	ENSP00000509592.1:n.*332T>C
ENST00000693327.1:c.820T>C	ENSP00000509195.1:p.Trp274Arg
ENST00000693431.1:c.820T>C	ENSP00000509147.1:p.Trp274Arg
ENST00000693605.1:c.*261T>C	ENSP00000510050.1:n.*261T>C
ENST00000369536.10:c.1345T>C MANE Select	ENSP00000358549.5:p.Trp449Arg
ENST00000369536.9:c.1345T>C	ENSP00000358549.5:p.Trp449Arg
ENST00000497828.1:n.448T>C
NM_020320.3:c.1345T>C	NP_064716.2:p.Trp449Arg
XM_005248735.3:c.820T>C	XP_005248792.2:p.Trp274Arg
XM_005248736.3:c.820T>C	XP_005248793.2:p.Trp274Arg
XM_005248737.3:c.820T>C	XP_005248794.2:p.Trp274Arg
XM_011535947.1:c.1345T>C	XP_011534249.1:p.Trp449Arg
XM_011535948.1:c.1345T>C	XP_011534250.1:p.Trp449Arg
XM_011535949.1:c.1345T>C	XP_011534251.1:p.Trp449Arg
XM_011535950.1:c.820T>C	XP_011534252.1:p.Trp274Arg
XM_011535951.1:c.820T>C	XP_011534253.1:p.Trp274Arg
XM_011535952.1:c.406T>C	XP_011534254.1:p.Trp136Arg
XM_011535953.1:c.406T>C	XP_011534255.1:p.Trp136Arg
XM_011535954.1:c.406T>C	XP_011534256.1:p.Trp136Arg
XM_011535955.1:c.406T>C	XP_011534257.1:p.Trp136Arg
XR_241848.1:n.1401T>C
NM_001318785.1:c.820T>C	NP_001305714.1:p.Trp274Arg
NM_001350505.1:c.1345T>C	NP_001337434.1:p.Trp449Arg
NM_001350506.1:c.820T>C	NP_001337435.1:p.Trp274Arg
NM_001350507.1:c.820T>C	NP_001337436.1:p.Trp274Arg
NM_001350508.1:c.820T>C	NP_001337437.1:p.Trp274Arg
NM_001350509.1:c.820T>C	NP_001337438.1:p.Trp274Arg
NM_001350510.1:c.820T>C	NP_001337439.1:p.Trp274Arg
NM_001350511.1:c.820T>C	NP_001337440.1:p.Trp274Arg
NM_020320.4:c.1345T>C	NP_064716.2:p.Trp449Arg
NR_134857.1:n.1416T>C
NR_146738.1:n.1688T>C
NR_146739.1:n.1497T>C
NR_146740.1:n.1765T>C
NR_146741.1:n.1427T>C
NR_146742.1:n.1799T>C
NR_146743.1:n.1637T>C
NR_146744.1:n.1765T>C
NR_146745.1:n.1424T>C
NR_146746.1:n.1859T>C
NR_146747.1:n.1203T>C
NR_146748.1:n.1663T>C
NR_146749.1:n.1637T>C
NR_146750.1:n.1761T>C
NR_146751.1:n.1641T>C
NR_146752.1:n.1705T>C
NR_146753.1:n.1557T>C
NR_146754.1:n.1501T>C
NR_146755.1:n.1765T>C
NR_146756.1:n.1420T>C
NR_146757.1:n.1691T>C
NR_146758.1:n.1420T>C
NR_146759.1:n.1420T>C
XM_011535949.3:c.1345T>C	XP_011534251.1:p.Trp449Arg
XM_017011073.1:c.820T>C	XP_016866562.1:p.Trp274Arg
XM_017011074.2:c.820T>C	XP_016866563.1:p.Trp274Arg
XM_017011075.2:c.820T>C	XP_016866564.1:p.Trp274Arg
XM_017011076.2:c.820T>C	XP_016866565.1:p.Trp274Arg
XM_017011077.2:c.820T>C	XP_016866566.1:p.Trp274Arg
XM_017011078.2:c.820T>C	XP_016866567.1:p.Trp274Arg
XM_024446494.1:c.820T>C	XP_024302262.1:p.Trp274Arg
NM_020320.5:c.1345T>C MANE Select	NP_064716.2:p.Trp449Arg
NM_001318785.2:c.820T>C	NP_001305714.1:p.Trp274Arg
NM_001350505.2:c.1345T>C	NP_001337434.1:p.Trp449Arg
NM_001350506.2:c.820T>C	NP_001337435.1:p.Trp274Arg
NM_001350507.2:c.820T>C	NP_001337436.1:p.Trp274Arg
NM_001350508.2:c.820T>C	NP_001337437.1:p.Trp274Arg
NM_001350509.2:c.820T>C	NP_001337438.1:p.Trp274Arg
NM_001350510.2:c.820T>C	NP_001337439.1:p.Trp274Arg
NM_001350511.2:c.820T>C	NP_001337440.1:p.Trp274Arg
NR_134857.2:n.1371T>C
NR_146738.2:n.1643T>C
NR_146739.2:n.1452T>C
NR_146740.2:n.1720T>C
NR_146741.2:n.1382T>C
NR_146742.2:n.1754T>C
NR_146743.2:n.1592T>C
NR_146744.2:n.1720T>C
NR_146745.2:n.1379T>C
NR_146746.2:n.1814T>C
NR_146747.2:n.1158T>C
NR_146748.2:n.1618T>C
NR_146749.2:n.1592T>C
NR_146750.2:n.1716T>C
NR_146751.2:n.1596T>C
NR_146752.2:n.1660T>C
NR_146753.2:n.1512T>C
NR_146754.2:n.1456T>C
NR_146755.2:n.1720T>C
NR_146756.2:n.1375T>C
NR_146757.2:n.1646T>C
NR_146758.2:n.1375T>C
NR_146759.2:n.1375T>C