Canonical Allele Identifier: CA364921189

Gene: RARS2

Linked Data

• ClinVar Variation Id: 1427423
• ClinVar RCV Id: RCV001945913
• dbSNP Id: rs1475065783
• MyVariant Identifiers: chr6:g.88227966C>A (hg19) ; chr6:g.87518248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.87518248C>A , CM000668.2:g.87518248C>A	GRCh38
NC_000006.11:g.88227966C>A , CM000668.1:g.88227966C>A	GRCh37
NC_000006.10:g.88284685C>A	NCBI36
NG_008601.1:g.76770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000451155.2:c.907G>T	ENSP00000389656.2:p.Gly303Ter
ENST00000493269.2:n.1817G>T
ENST00000497828.2:n.3992G>T
ENST00000684790.1:c.*438G>T	ENSP00000509974.1:n.*438G>T
ENST00000685069.1:c.477-96G>T	ENSP00000509876.1:n.477-96G>T
ENST00000685219.1:n.1833G>T
ENST00000685336.1:c.*855G>T	ENSP00000508757.1:n.*855G>T
ENST00000685376.1:c.*554G>T	ENSP00000508661.1:n.*554G>T
ENST00000685408.1:c.907G>T	ENSP00000509026.1:p.Gly303Ter
ENST00000685701.1:c.493G>T	ENSP00000509573.1:p.Gly165Ter
ENST00000685881.1:c.891-96G>T	ENSP00000510572.1:n.891-96G>T
ENST00000686142.1:c.891-69G>T	ENSP00000510793.1:n.891-69G>T
ENST00000686154.1:c.493G>T	ENSP00000508436.1:p.Gly165Ter
ENST00000686196.1:n.1677G>T
ENST00000686284.1:c.493G>T	ENSP00000510099.1:p.Gly165Ter
ENST00000686371.1:n.934G>T
ENST00000686407.1:c.493G>T	ENSP00000509880.1:p.Gly165Ter
ENST00000686857.1:c.*348G>T	ENSP00000509934.1:n.*348G>T
ENST00000686988.1:c.1530G>T	ENSP00000508830.1:n.1530G>T
ENST00000687090.1:n.2162G>T
ENST00000687437.1:c.1432G>T	ENSP00000508968.1:p.Gly478Ter
ENST00000687579.1:c.*478G>T	ENSP00000510257.1:n.*478G>T
ENST00000687586.1:c.355G>T	ENSP00000508441.1:p.Gly119Ter
ENST00000687729.1:c.850G>T	ENSP00000508582.1:p.Gly284Ter
ENST00000687909.1:c.*842G>T	ENSP00000508659.1:n.*842G>T
ENST00000688106.1:c.477-96G>T	ENSP00000509529.1:n.477-96G>T
ENST00000688391.1:n.1940G>T
ENST00000688532.1:c.355G>T	ENSP00000510320.1:p.Gly119Ter
ENST00000688808.1:n.2303G>T
ENST00000688842.1:n.3906G>T
ENST00000689174.1:c.907G>T	ENSP00000510542.1:p.Gly303Ter
ENST00000689206.1:c.493G>T	ENSP00000510495.1:p.Gly165Ter
ENST00000689561.1:n.2448G>T
ENST00000689594.1:n.2424G>T
ENST00000689952.1:c.*770G>T	ENSP00000508977.1:n.*770G>T
ENST00000690205.1:c.*1310G>T	ENSP00000508972.1:n.*1310G>T
ENST00000690622.1:c.493G>T	ENSP00000508528.1:p.Gly165Ter
ENST00000690705.1:c.*348G>T	ENSP00000509923.1:n.*348G>T
ENST00000690884.1:c.*348G>T	ENSP00000509931.1:n.*348G>T
ENST00000691205.1:n.2763G>T
ENST00000691238.1:c.*554G>T	ENSP00000510094.1:n.*554G>T
ENST00000691533.1:n.1833G>T
ENST00000691634.1:n.1313G>T
ENST00000691725.1:c.1432G>T	ENSP00000509453.1:p.Gly478Ter
ENST00000691815.1:c.*348G>T	ENSP00000509579.1:n.*348G>T
ENST00000692270.1:c.*348G>T	ENSP00000510055.1:n.*348G>T
ENST00000692394.1:c.211G>T	ENSP00000509567.1:p.Gly71Ter
ENST00000692684.1:c.907G>T	ENSP00000509712.1:p.Gly303Ter
ENST00000692843.1:c.*419G>T	ENSP00000509592.1:n.*419G>T
ENST00000693327.1:c.907G>T	ENSP00000509195.1:p.Gly303Ter
ENST00000693431.1:c.907G>T	ENSP00000509147.1:p.Gly303Ter
ENST00000693605.1:c.*348G>T	ENSP00000510050.1:n.*348G>T
ENST00000369536.10:c.1432G>T MANE Select	ENSP00000358549.5:p.Gly478Ter
ENST00000369536.9:c.1432G>T	ENSP00000358549.5:p.Gly478Ter
NM_020320.3:c.1432G>T	NP_064716.2:p.Gly478Ter
XM_005248735.3:c.907G>T	XP_005248792.2:p.Gly303Ter
XM_005248736.3:c.907G>T	XP_005248793.2:p.Gly303Ter
XM_005248737.3:c.907G>T	XP_005248794.2:p.Gly303Ter
XM_011535947.1:c.1432G>T	XP_011534249.1:p.Gly478Ter
XM_011535948.1:c.1432G>T	XP_011534250.1:p.Gly478Ter
XM_011535949.1:c.1416-96G>T	XP_011534251.1:n.1416-96G>T
XM_011535950.1:c.907G>T	XP_011534252.1:p.Gly303Ter
XM_011535951.1:c.907G>T	XP_011534253.1:p.Gly303Ter
XM_011535952.1:c.493G>T	XP_011534254.1:p.Gly165Ter
XM_011535953.1:c.493G>T	XP_011534255.1:p.Gly165Ter
XM_011535954.1:c.493G>T	XP_011534256.1:p.Gly165Ter
XM_011535955.1:c.493G>T	XP_011534257.1:p.Gly165Ter
XR_241848.1:n.1488G>T
NM_001318785.1:c.907G>T	NP_001305714.1:p.Gly303Ter
NM_001350505.1:c.1432G>T	NP_001337434.1:p.Gly478Ter
NM_001350506.1:c.907G>T	NP_001337435.1:p.Gly303Ter
NM_001350507.1:c.907G>T	NP_001337436.1:p.Gly303Ter
NM_001350508.1:c.907G>T	NP_001337437.1:p.Gly303Ter
NM_001350509.1:c.907G>T	NP_001337438.1:p.Gly303Ter
NM_001350510.1:c.907G>T	NP_001337439.1:p.Gly303Ter
NM_001350511.1:c.907G>T	NP_001337440.1:p.Gly303Ter
NM_020320.4:c.1432G>T	NP_064716.2:p.Gly478Ter
NR_134857.1:n.1503G>T
NR_146738.1:n.1775G>T
NR_146739.1:n.1584G>T
NR_146740.1:n.1852G>T
NR_146741.1:n.1514G>T
NR_146742.1:n.1886G>T
NR_146743.1:n.1724G>T
NR_146744.1:n.1836-96G>T
NR_146745.1:n.1511G>T
NR_146746.1:n.1930-96G>T
NR_146747.1:n.1290G>T
NR_146748.1:n.1750G>T
NR_146749.1:n.1724G>T
NR_146750.1:n.1848G>T
NR_146751.1:n.1712-96G>T
NR_146752.1:n.1792G>T
NR_146753.1:n.1644G>T
NR_146754.1:n.1588G>T
NR_146755.1:n.1852G>T
NR_146756.1:n.1491-96G>T
NR_146757.1:n.1778G>T
NR_146758.1:n.1507G>T
NR_146759.1:n.1507G>T
XM_011535949.3:c.1416-96G>T	XP_011534251.1:n.1416-96G>T
XM_017011073.1:c.907G>T	XP_016866562.1:p.Gly303Ter
XM_017011074.2:c.907G>T	XP_016866563.1:p.Gly303Ter
XM_017011075.2:c.907G>T	XP_016866564.1:p.Gly303Ter
XM_017011076.2:c.907G>T	XP_016866565.1:p.Gly303Ter
XM_017011077.2:c.907G>T	XP_016866566.1:p.Gly303Ter
XM_017011078.2:c.907G>T	XP_016866567.1:p.Gly303Ter
XM_024446494.1:c.907G>T	XP_024302262.1:p.Gly303Ter
NM_020320.5:c.1432G>T MANE Select	NP_064716.2:p.Gly478Ter
NM_001318785.2:c.907G>T	NP_001305714.1:p.Gly303Ter
NM_001350505.2:c.1432G>T	NP_001337434.1:p.Gly478Ter
NM_001350506.2:c.907G>T	NP_001337435.1:p.Gly303Ter
NM_001350507.2:c.907G>T	NP_001337436.1:p.Gly303Ter
NM_001350508.2:c.907G>T	NP_001337437.1:p.Gly303Ter
NM_001350509.2:c.907G>T	NP_001337438.1:p.Gly303Ter
NM_001350510.2:c.907G>T	NP_001337439.1:p.Gly303Ter
NM_001350511.2:c.907G>T	NP_001337440.1:p.Gly303Ter
NR_134857.2:n.1458G>T
NR_146738.2:n.1730G>T
NR_146739.2:n.1539G>T
NR_146740.2:n.1807G>T
NR_146741.2:n.1469G>T
NR_146742.2:n.1841G>T
NR_146743.2:n.1679G>T
NR_146744.2:n.1791-96G>T
NR_146745.2:n.1466G>T
NR_146746.2:n.1885-96G>T
NR_146747.2:n.1245G>T
NR_146748.2:n.1705G>T
NR_146749.2:n.1679G>T
NR_146750.2:n.1803G>T
NR_146751.2:n.1667-96G>T
NR_146752.2:n.1747G>T
NR_146753.2:n.1599G>T
NR_146754.2:n.1543G>T
NR_146755.2:n.1807G>T
NR_146756.2:n.1446-96G>T
NR_146757.2:n.1733G>T
NR_146758.2:n.1462G>T
NR_146759.2:n.1462G>T