Canonical Allele Identifier: CA364919900

Gene: RARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.87516843G>A , CM000668.2:g.87516843G>A	GRCh38
NC_000006.11:g.88226561G>A , CM000668.1:g.88226561G>A	GRCh37
NC_000006.10:g.88283280G>A	NCBI36
NG_008601.1:g.78175C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020320.5:c.1549C>T MANE Select	NP_064716.2:p.Gln517Ter
ENST00000369536.10:c.1549C>T MANE Select	ENSP00000358549.5:p.Gln517Ter
NM_001318785.1:c.1024C>T	NP_001305714.1:p.Gln342Ter
NM_001318785.2:c.1024C>T	NP_001305714.1:p.Gln342Ter
NM_001350505.1:c.1549C>T	NP_001337434.1:p.Gln517Ter
NM_001350505.2:c.1549C>T	NP_001337434.1:p.Gln517Ter
NM_001350506.1:c.1024C>T	NP_001337435.1:p.Gln342Ter
NM_001350506.2:c.1024C>T	NP_001337435.1:p.Gln342Ter
NM_001350507.1:c.1024C>T	NP_001337436.1:p.Gln342Ter
NM_001350507.2:c.1024C>T	NP_001337436.1:p.Gln342Ter
NM_001350508.1:c.1024C>T	NP_001337437.1:p.Gln342Ter
NM_001350508.2:c.1024C>T	NP_001337437.1:p.Gln342Ter
NM_001350509.1:c.1024C>T	NP_001337438.1:p.Gln342Ter
NM_001350509.2:c.1024C>T	NP_001337438.1:p.Gln342Ter
NM_001350510.1:c.1024C>T	NP_001337439.1:p.Gln342Ter
NM_001350510.2:c.1024C>T	NP_001337439.1:p.Gln342Ter
NM_001350511.1:c.1024C>T	NP_001337440.1:p.Gln342Ter
NM_001350511.2:c.1024C>T	NP_001337440.1:p.Gln342Ter
NM_020320.3:c.1549C>T	NP_064716.2:p.Gln517Ter
NM_020320.4:c.1549C>T	NP_064716.2:p.Gln517Ter
NR_134857.1:n.1620C>T
NR_134857.2:n.1575C>T
NR_146738.1:n.1892C>T
NR_146738.2:n.1847C>T
NR_146739.1:n.1701C>T
NR_146739.2:n.1656C>T
NR_146740.1:n.1969C>T
NR_146740.2:n.1924C>T
NR_146741.1:n.1631C>T
NR_146741.2:n.1586C>T
NR_146742.1:n.2003C>T
NR_146742.2:n.1958C>T
NR_146743.1:n.1841C>T
NR_146743.2:n.1796C>T
NR_146744.1:n.1980C>T
NR_146744.2:n.1935C>T
NR_146745.1:n.1628C>T
NR_146745.2:n.1583C>T
NR_146746.1:n.2074C>T
NR_146746.2:n.2029C>T
NR_146747.1:n.1407C>T
NR_146747.2:n.1362C>T
NR_146748.1:n.1867C>T
NR_146748.2:n.1822C>T
NR_146749.1:n.1841C>T
NR_146749.2:n.1796C>T
NR_146750.1:n.1965C>T
NR_146750.2:n.1920C>T
NR_146751.1:n.1856C>T
NR_146751.2:n.1811C>T
NR_146752.1:n.1909C>T
NR_146752.2:n.1864C>T
NR_146753.1:n.1761C>T
NR_146753.2:n.1716C>T
NR_146754.1:n.1705C>T
NR_146754.2:n.1660C>T
NR_146755.1:n.1969C>T
NR_146755.2:n.1924C>T
NR_146756.1:n.1635C>T
NR_146756.2:n.1590C>T
NR_146757.1:n.1895C>T
NR_146757.2:n.1850C>T
NR_146758.1:n.1624C>T
NR_146758.2:n.1579C>T
NR_146759.1:n.1624C>T
NR_146759.2:n.1579C>T
ENST00000369536.9:c.1549C>T	ENSP00000358549.5:p.Gln517Ter
ENST00000451155.2:c.1024C>T	ENSP00000389656.2:p.Gln342Ter
ENST00000493269.1:n.38C>T
ENST00000493269.2:n.3222C>T
ENST00000497828.2:n.5397C>T
ENST00000684790.1:c.*555C>T	ENSP00000509974.1:n.*555C>T
ENST00000685069.1:c.*51C>T	ENSP00000509876.1:n.*51C>T
ENST00000685219.1:n.1950C>T
ENST00000685336.1:c.*972C>T	ENSP00000508757.1:n.*972C>T
ENST00000685376.1:c.*671C>T	ENSP00000508661.1:n.*671C>T
ENST00000685408.1:c.1024C>T	ENSP00000509026.1:p.Gln342Ter
ENST00000685701.1:c.610C>T	ENSP00000509573.1:p.Gln204Ter
ENST00000685881.1:c.*51C>T	ENSP00000510572.1:n.*51C>T
ENST00000686142.1:c.*51C>T	ENSP00000510793.1:n.*51C>T
ENST00000686154.1:c.610C>T	ENSP00000508436.1:p.Gln204Ter
ENST00000686196.1:n.1794C>T
ENST00000686284.1:c.610C>T	ENSP00000510099.1:p.Gln204Ter
ENST00000686371.1:n.1051C>T
ENST00000686407.1:c.610C>T	ENSP00000509880.1:p.Gln204Ter
ENST00000686857.1:c.*465C>T	ENSP00000509934.1:n.*465C>T
ENST00000686988.1:c.1647C>T	ENSP00000508830.1:n.1647C>T
ENST00000687090.1:n.2279C>T
ENST00000687437.1:c.1549C>T	ENSP00000508968.1:p.Gln517Ter
ENST00000687579.1:c.*595C>T	ENSP00000510257.1:n.*595C>T
ENST00000687586.1:c.472C>T	ENSP00000508441.1:p.Gln158Ter
ENST00000687729.1:c.967C>T	ENSP00000508582.1:p.Gln323Ter
ENST00000687909.1:c.*959C>T	ENSP00000508659.1:n.*959C>T
ENST00000688106.1:c.*51C>T	ENSP00000509529.1:n.*51C>T
ENST00000688391.1:n.2057C>T
ENST00000688532.1:c.472C>T	ENSP00000510320.1:p.Gln158Ter
ENST00000688808.1:n.2420C>T
ENST00000688842.1:n.4023C>T
ENST00000689174.1:c.1024C>T	ENSP00000510542.1:p.Gln342Ter
ENST00000689206.1:c.610C>T	ENSP00000510495.1:p.Gln204Ter
ENST00000689561.1:n.2565C>T
ENST00000689594.1:n.2541C>T
ENST00000689952.1:c.*887C>T	ENSP00000508977.1:n.*887C>T
ENST00000690205.1:c.*1427C>T	ENSP00000508972.1:n.*1427C>T
ENST00000690622.1:c.610C>T	ENSP00000508528.1:p.Gln204Ter
ENST00000690705.1:c.*465C>T	ENSP00000509923.1:n.*465C>T
ENST00000690884.1:c.*465C>T	ENSP00000509931.1:n.*465C>T
ENST00000691205.1:n.2880C>T
ENST00000691238.1:c.*671C>T	ENSP00000510094.1:n.*671C>T
ENST00000691533.1:n.3238C>T
ENST00000691634.1:n.1430C>T
ENST00000691725.1:c.1549C>T	ENSP00000509453.1:p.Gln517Ter
ENST00000691815.1:c.*465C>T	ENSP00000509579.1:n.*465C>T
ENST00000692270.1:c.*465C>T	ENSP00000510055.1:n.*465C>T
ENST00000692394.1:c.328C>T	ENSP00000509567.1:p.Gln110Ter
ENST00000692684.1:c.1024C>T	ENSP00000509712.1:p.Gln342Ter
ENST00000692843.1:c.*536C>T	ENSP00000509592.1:n.*536C>T
ENST00000693327.1:c.1024C>T	ENSP00000509195.1:p.Gln342Ter
ENST00000693431.1:c.1024C>T	ENSP00000509147.1:p.Gln342Ter
ENST00000693605.1:c.*465C>T	ENSP00000510050.1:n.*465C>T
XM_005248735.3:c.1024C>T	XP_005248792.2:p.Gln342Ter
XM_005248736.3:c.1024C>T	XP_005248793.2:p.Gln342Ter
XM_005248737.3:c.1024C>T	XP_005248794.2:p.Gln342Ter
XM_011535947.1:c.1549C>T	XP_011534249.1:p.Gln517Ter
XM_011535948.1:c.1549C>T	XP_011534250.1:p.Gln517Ter
XM_011535950.1:c.1024C>T	XP_011534252.1:p.Gln342Ter
XM_011535951.1:c.1024C>T	XP_011534253.1:p.Gln342Ter
XM_011535952.1:c.610C>T	XP_011534254.1:p.Gln204Ter
XM_011535953.1:c.610C>T	XP_011534255.1:p.Gln204Ter
XM_011535954.1:c.610C>T	XP_011534256.1:p.Gln204Ter
XM_011535955.1:c.610C>T	XP_011534257.1:p.Gln204Ter
XM_017011073.1:c.1024C>T	XP_016866562.1:p.Gln342Ter
XM_017011074.2:c.1024C>T	XP_016866563.1:p.Gln342Ter
XM_017011075.2:c.1024C>T	XP_016866564.1:p.Gln342Ter
XM_017011076.2:c.1024C>T	XP_016866565.1:p.Gln342Ter
XM_017011077.2:c.1024C>T	XP_016866566.1:p.Gln342Ter
XM_017011078.2:c.1024C>T	XP_016866567.1:p.Gln342Ter
XM_024446494.1:c.1024C>T	XP_024302262.1:p.Gln342Ter
XR_241848.1:n.1605C>T