Canonical Allele Identifier: CA321397

Gene: RARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.87529602C>A , CM000668.2:g.87529602C>A	GRCh38
NC_000006.11:g.88239320C>A , CM000668.1:g.88239320C>A	GRCh37
NC_000006.10:g.88296039C>A	NCBI36
NG_008601.1:g.65416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000451155.2:c.293G>T	ENSP00000389656.2:p.Arg98Leu
ENST00000493269.2:n.842G>T
ENST00000684790.1:c.293G>T	ENSP00000509974.1:p.Arg98Leu
ENST00000685069.1:c.-122G>T	ENSP00000509876.1:n.-122G>T
ENST00000685219.1:n.854G>T
ENST00000685336.1:c.293G>T	ENSP00000508757.1:p.Arg98Leu
ENST00000685376.1:c.293G>T	ENSP00000508661.1:p.Arg98Leu
ENST00000685408.1:c.293G>T	ENSP00000509026.1:p.Arg98Leu
ENST00000685701.1:c.-122G>T	ENSP00000509573.1:n.-122G>T
ENST00000685881.1:c.293G>T	ENSP00000510572.1:p.Arg98Leu
ENST00000686142.1:c.293G>T	ENSP00000510793.1:p.Arg98Leu
ENST00000686154.1:c.-423G>T	ENSP00000508436.1:n.-423G>T
ENST00000686196.1:n.1067G>T
ENST00000686284.1:c.-144G>T	ENSP00000510099.1:n.-144G>T
ENST00000686371.1:n.324G>T
ENST00000686407.1:c.-122G>T	ENSP00000509880.1:n.-122G>T
ENST00000686857.1:c.293G>T	ENSP00000509934.1:p.Arg98Leu
ENST00000686988.1:c.916G>T	ENSP00000508830.1:n.916G>T
ENST00000687078.1:n.621G>T
ENST00000687090.1:n.1183G>T
ENST00000687437.1:c.818G>T	ENSP00000508968.1:p.Arg273Leu
ENST00000687579.1:c.246+1182G>T	ENSP00000510257.1:n.246+1182G>T
ENST00000687586.1:c.-565G>T	ENSP00000508441.1:n.-565G>T
ENST00000687729.1:c.293G>T	ENSP00000508582.1:p.Arg98Leu
ENST00000687909.1:c.*324G>T	ENSP00000508659.1:n.*324G>T
ENST00000688106.1:c.-144G>T	ENSP00000509529.1:n.-144G>T
ENST00000688391.1:n.854G>T
ENST00000688532.1:c.-256G>T	ENSP00000510320.1:n.-256G>T
ENST00000688842.1:n.922G>T
ENST00000689174.1:c.293G>T	ENSP00000510542.1:p.Arg98Leu
ENST00000689206.1:c.-122G>T	ENSP00000510495.1:n.-122G>T
ENST00000689561.1:n.1059G>T
ENST00000689952.1:c.*160G>T	ENSP00000508977.1:n.*160G>T
ENST00000690205.1:c.*700G>T	ENSP00000508972.1:n.*700G>T
ENST00000690555.1:n.854G>T
ENST00000690622.1:c.-122G>T	ENSP00000508528.1:n.-122G>T
ENST00000690705.1:c.-122G>T	ENSP00000509923.1:n.-122G>T
ENST00000690884.1:c.293G>T	ENSP00000509931.1:p.Arg98Leu
ENST00000691205.1:n.621G>T
ENST00000691238.1:c.818G>T	ENSP00000510094.1:p.Arg273Leu
ENST00000691533.1:n.854G>T
ENST00000691725.1:c.818G>T	ENSP00000509453.1:p.Arg273Leu
ENST00000691815.1:c.-122G>T	ENSP00000509579.1:n.-122G>T
ENST00000692270.1:c.293G>T	ENSP00000510055.1:p.Arg98Leu
ENST00000692394.1:c.-275G>T	ENSP00000509567.1:n.-275G>T
ENST00000692684.1:c.293G>T	ENSP00000509712.1:p.Arg98Leu
ENST00000692843.1:c.818G>T	ENSP00000509592.1:p.Arg273Leu
ENST00000692934.1:n.1045G>T
ENST00000693327.1:c.293G>T	ENSP00000509195.1:p.Arg98Leu
ENST00000693431.1:c.293G>T	ENSP00000509147.1:p.Arg98Leu
ENST00000693605.1:c.-427G>T	ENSP00000510050.1:n.-427G>T
ENST00000369536.10:c.818G>T MANE Select	ENSP00000358549.5:p.Arg273Leu
ENST00000369536.9:c.818G>T	ENSP00000358549.5:p.Arg273Leu
NM_020320.3:c.818G>T	NP_064716.2:p.Arg273Leu
XM_005248735.3:c.293G>T	XP_005248792.2:p.Arg98Leu
XM_005248736.3:c.293G>T	XP_005248793.2:p.Arg98Leu
XM_005248737.3:c.293G>T	XP_005248794.2:p.Arg98Leu
XM_011535947.1:c.818G>T	XP_011534249.1:p.Arg273Leu
XM_011535948.1:c.818G>T	XP_011534250.1:p.Arg273Leu
XM_011535949.1:c.818G>T	XP_011534251.1:p.Arg273Leu
XM_011535950.1:c.293G>T	XP_011534252.1:p.Arg98Leu
XM_011535951.1:c.293G>T	XP_011534253.1:p.Arg98Leu
XM_011535952.1:c.-122G>T	XP_011534254.1:n.-122G>T
XM_011535953.1:c.-122G>T	XP_011534255.1:n.-122G>T
XM_011535954.1:c.-122G>T	XP_011534256.1:n.-122G>T
XM_011535955.1:c.-122G>T	XP_011534257.1:n.-122G>T
XR_241848.1:n.878G>T
NM_001318785.1:c.293G>T	NP_001305714.1:p.Arg98Leu
NM_001350505.1:c.818G>T	NP_001337434.1:p.Arg273Leu
NM_001350506.1:c.293G>T	NP_001337435.1:p.Arg98Leu
NM_001350507.1:c.293G>T	NP_001337436.1:p.Arg98Leu
NM_001350508.1:c.293G>T	NP_001337437.1:p.Arg98Leu
NM_001350509.1:c.293G>T	NP_001337438.1:p.Arg98Leu
NM_001350510.1:c.293G>T	NP_001337439.1:p.Arg98Leu
NM_001350511.1:c.293G>T	NP_001337440.1:p.Arg98Leu
NM_020320.4:c.818G>T	NP_064716.2:p.Arg273Leu
NR_134857.1:n.893G>T
NR_146738.1:n.1161G>T
NR_146739.1:n.974G>T
NR_146740.1:n.1238G>T
NR_146741.1:n.900G>T
NR_146742.1:n.1276G>T
NR_146743.1:n.1114G>T
NR_146744.1:n.1238G>T
NR_146745.1:n.897G>T
NR_146746.1:n.1332G>T
NR_146747.1:n.676G>T
NR_146748.1:n.1114G>T
NR_146749.1:n.1114G>T
NR_146750.1:n.1238G>T
NR_146751.1:n.1114G>T
NR_146752.1:n.1182G>T
NR_146753.1:n.1030G>T
NR_146754.1:n.974G>T
NR_146755.1:n.1238G>T
NR_146756.1:n.893G>T
NR_146757.1:n.1164G>T
NR_146758.1:n.897G>T
NR_146759.1:n.897G>T
XM_011535949.3:c.818G>T	XP_011534251.1:p.Arg273Leu
XM_017011073.1:c.293G>T	XP_016866562.1:p.Arg98Leu
XM_017011074.2:c.293G>T	XP_016866563.1:p.Arg98Leu
XM_017011075.2:c.293G>T	XP_016866564.1:p.Arg98Leu
XM_017011076.2:c.293G>T	XP_016866565.1:p.Arg98Leu
XM_017011077.2:c.293G>T	XP_016866566.1:p.Arg98Leu
XM_017011078.2:c.293G>T	XP_016866567.1:p.Arg98Leu
XM_024446494.1:c.293G>T	XP_024302262.1:p.Arg98Leu
XR_001743517.2:n.857G>T
NM_020320.5:c.818G>T MANE Select	NP_064716.2:p.Arg273Leu
NM_001318785.2:c.293G>T	NP_001305714.1:p.Arg98Leu
NM_001350505.2:c.818G>T	NP_001337434.1:p.Arg273Leu
NM_001350506.2:c.293G>T	NP_001337435.1:p.Arg98Leu
NM_001350507.2:c.293G>T	NP_001337436.1:p.Arg98Leu
NM_001350508.2:c.293G>T	NP_001337437.1:p.Arg98Leu
NM_001350509.2:c.293G>T	NP_001337438.1:p.Arg98Leu
NM_001350510.2:c.293G>T	NP_001337439.1:p.Arg98Leu
NM_001350511.2:c.293G>T	NP_001337440.1:p.Arg98Leu
NR_134857.2:n.848G>T
NR_146738.2:n.1116G>T
NR_146739.2:n.929G>T
NR_146740.2:n.1193G>T
NR_146741.2:n.855G>T
NR_146742.2:n.1231G>T
NR_146743.2:n.1069G>T
NR_146744.2:n.1193G>T
NR_146745.2:n.852G>T
NR_146746.2:n.1287G>T
NR_146747.2:n.631G>T
NR_146748.2:n.1069G>T
NR_146749.2:n.1069G>T
NR_146750.2:n.1193G>T
NR_146751.2:n.1069G>T
NR_146752.2:n.1137G>T
NR_146753.2:n.985G>T
NR_146754.2:n.929G>T
NR_146755.2:n.1193G>T
NR_146756.2:n.848G>T
NR_146757.2:n.1119G>T
NR_146758.2:n.852G>T
NR_146759.2:n.852G>T