Canonical Allele Identifier: CA142840643

Gene: RARS2

Linked Data

• dbSNP Id: rs750816674
• MyVariant Identifiers: chr6:g.88228389G>T (hg19) ; chr6:g.87518671G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.87518671G>T , CM000668.2:g.87518671G>T	GRCh38
NC_000006.11:g.88228389G>T , CM000668.1:g.88228389G>T	GRCh37
NC_000006.10:g.88285108G>T	NCBI36
NG_008601.1:g.76347C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000451155.2:c.849C>A	ENSP00000389656.2:p.Asp283Glu
ENST00000493269.2:n.1394C>A
ENST00000497828.2:n.3569C>A
ENST00000684790.1:c.*380C>A	ENSP00000509974.1:n.*380C>A
ENST00000685069.1:c.435C>A	ENSP00000509876.1:p.Asp145Glu
ENST00000685219.1:n.1410C>A
ENST00000685336.1:c.*797C>A	ENSP00000508757.1:n.*797C>A
ENST00000685376.1:c.*496C>A	ENSP00000508661.1:n.*496C>A
ENST00000685408.1:c.849C>A	ENSP00000509026.1:p.Asp283Glu
ENST00000685701.1:c.435C>A	ENSP00000509573.1:p.Asp145Glu
ENST00000685881.1:c.849C>A	ENSP00000510572.1:p.Asp283Glu
ENST00000686142.1:c.849C>A	ENSP00000510793.1:p.Asp283Glu
ENST00000686154.1:c.435C>A	ENSP00000508436.1:p.Asp145Glu
ENST00000686196.1:n.1619C>A
ENST00000686284.1:c.435C>A	ENSP00000510099.1:p.Asp145Glu
ENST00000686371.1:n.876C>A
ENST00000686407.1:c.435C>A	ENSP00000509880.1:p.Asp145Glu
ENST00000686857.1:c.*290C>A	ENSP00000509934.1:n.*290C>A
ENST00000686988.1:c.1472C>A	ENSP00000508830.1:n.1472C>A
ENST00000687090.1:n.1739C>A
ENST00000687437.1:c.1374C>A	ENSP00000508968.1:p.Asp458Glu
ENST00000687579.1:c.*420C>A	ENSP00000510257.1:n.*420C>A
ENST00000687586.1:c.297C>A	ENSP00000508441.1:p.Asp99Glu
ENST00000687729.1:c.792C>A	ENSP00000508582.1:p.Asp264Glu
ENST00000687909.1:c.*784C>A	ENSP00000508659.1:n.*784C>A
ENST00000688106.1:c.435C>A	ENSP00000509529.1:p.Asp145Glu
ENST00000688391.1:n.1882C>A
ENST00000688532.1:c.297C>A	ENSP00000510320.1:p.Asp99Glu
ENST00000688808.1:n.1880C>A
ENST00000688842.1:n.3848C>A
ENST00000689174.1:c.849C>A	ENSP00000510542.1:p.Asp283Glu
ENST00000689206.1:c.435C>A	ENSP00000510495.1:p.Asp145Glu
ENST00000689561.1:n.2390C>A
ENST00000689594.1:n.2366C>A
ENST00000689952.1:c.*712C>A	ENSP00000508977.1:n.*712C>A
ENST00000690205.1:c.*1252C>A	ENSP00000508972.1:n.*1252C>A
ENST00000690622.1:c.435C>A	ENSP00000508528.1:p.Asp145Glu
ENST00000690705.1:c.*290C>A	ENSP00000509923.1:n.*290C>A
ENST00000690884.1:c.*290C>A	ENSP00000509931.1:n.*290C>A
ENST00000691205.1:n.2340C>A
ENST00000691238.1:c.*496C>A	ENSP00000510094.1:n.*496C>A
ENST00000691533.1:n.1410C>A
ENST00000691634.1:n.1255C>A
ENST00000691725.1:c.1374C>A	ENSP00000509453.1:p.Asp458Glu
ENST00000691815.1:c.*290C>A	ENSP00000509579.1:n.*290C>A
ENST00000692270.1:c.*290C>A	ENSP00000510055.1:n.*290C>A
ENST00000692394.1:c.153C>A	ENSP00000509567.1:p.Asp51Glu
ENST00000692684.1:c.849C>A	ENSP00000509712.1:p.Asp283Glu
ENST00000692843.1:c.*361C>A	ENSP00000509592.1:n.*361C>A
ENST00000693327.1:c.849C>A	ENSP00000509195.1:p.Asp283Glu
ENST00000693431.1:c.849C>A	ENSP00000509147.1:p.Asp283Glu
ENST00000693605.1:c.*290C>A	ENSP00000510050.1:n.*290C>A
ENST00000369536.10:c.1374C>A MANE Select	ENSP00000358549.5:p.Asp458Glu
ENST00000369536.9:c.1374C>A	ENSP00000358549.5:p.Asp458Glu
ENST00000497828.1:n.477C>A
NM_020320.3:c.1374C>A	NP_064716.2:p.Asp458Glu
XM_005248735.3:c.849C>A	XP_005248792.2:p.Asp283Glu
XM_005248736.3:c.849C>A	XP_005248793.2:p.Asp283Glu
XM_005248737.3:c.849C>A	XP_005248794.2:p.Asp283Glu
XM_011535947.1:c.1374C>A	XP_011534249.1:p.Asp458Glu
XM_011535948.1:c.1374C>A	XP_011534250.1:p.Asp458Glu
XM_011535949.1:c.1374C>A	XP_011534251.1:p.Asp458Glu
XM_011535950.1:c.849C>A	XP_011534252.1:p.Asp283Glu
XM_011535951.1:c.849C>A	XP_011534253.1:p.Asp283Glu
XM_011535952.1:c.435C>A	XP_011534254.1:p.Asp145Glu
XM_011535953.1:c.435C>A	XP_011534255.1:p.Asp145Glu
XM_011535954.1:c.435C>A	XP_011534256.1:p.Asp145Glu
XM_011535955.1:c.435C>A	XP_011534257.1:p.Asp145Glu
XR_241848.1:n.1430C>A
NM_001318785.1:c.849C>A	NP_001305714.1:p.Asp283Glu
NM_001350505.1:c.1374C>A	NP_001337434.1:p.Asp458Glu
NM_001350506.1:c.849C>A	NP_001337435.1:p.Asp283Glu
NM_001350507.1:c.849C>A	NP_001337436.1:p.Asp283Glu
NM_001350508.1:c.849C>A	NP_001337437.1:p.Asp283Glu
NM_001350509.1:c.849C>A	NP_001337438.1:p.Asp283Glu
NM_001350510.1:c.849C>A	NP_001337439.1:p.Asp283Glu
NM_001350511.1:c.849C>A	NP_001337440.1:p.Asp283Glu
NM_020320.4:c.1374C>A	NP_064716.2:p.Asp458Glu
NR_134857.1:n.1445C>A
NR_146738.1:n.1717C>A
NR_146739.1:n.1526C>A
NR_146740.1:n.1794C>A
NR_146741.1:n.1456C>A
NR_146742.1:n.1828C>A
NR_146743.1:n.1666C>A
NR_146744.1:n.1794C>A
NR_146745.1:n.1453C>A
NR_146746.1:n.1888C>A
NR_146747.1:n.1232C>A
NR_146748.1:n.1692C>A
NR_146749.1:n.1666C>A
NR_146750.1:n.1790C>A
NR_146751.1:n.1670C>A
NR_146752.1:n.1734C>A
NR_146753.1:n.1586C>A
NR_146754.1:n.1530C>A
NR_146755.1:n.1794C>A
NR_146756.1:n.1449C>A
NR_146757.1:n.1720C>A
NR_146758.1:n.1449C>A
NR_146759.1:n.1449C>A
XM_011535949.3:c.1374C>A	XP_011534251.1:p.Asp458Glu
XM_017011073.1:c.849C>A	XP_016866562.1:p.Asp283Glu
XM_017011074.2:c.849C>A	XP_016866563.1:p.Asp283Glu
XM_017011075.2:c.849C>A	XP_016866564.1:p.Asp283Glu
XM_017011076.2:c.849C>A	XP_016866565.1:p.Asp283Glu
XM_017011077.2:c.849C>A	XP_016866566.1:p.Asp283Glu
XM_017011078.2:c.849C>A	XP_016866567.1:p.Asp283Glu
XM_024446494.1:c.849C>A	XP_024302262.1:p.Asp283Glu
NM_020320.5:c.1374C>A MANE Select	NP_064716.2:p.Asp458Glu
NM_001318785.2:c.849C>A	NP_001305714.1:p.Asp283Glu
NM_001350505.2:c.1374C>A	NP_001337434.1:p.Asp458Glu
NM_001350506.2:c.849C>A	NP_001337435.1:p.Asp283Glu
NM_001350507.2:c.849C>A	NP_001337436.1:p.Asp283Glu
NM_001350508.2:c.849C>A	NP_001337437.1:p.Asp283Glu
NM_001350509.2:c.849C>A	NP_001337438.1:p.Asp283Glu
NM_001350510.2:c.849C>A	NP_001337439.1:p.Asp283Glu
NM_001350511.2:c.849C>A	NP_001337440.1:p.Asp283Glu
NR_134857.2:n.1400C>A
NR_146738.2:n.1672C>A
NR_146739.2:n.1481C>A
NR_146740.2:n.1749C>A
NR_146741.2:n.1411C>A
NR_146742.2:n.1783C>A
NR_146743.2:n.1621C>A
NR_146744.2:n.1749C>A
NR_146745.2:n.1408C>A
NR_146746.2:n.1843C>A
NR_146747.2:n.1187C>A
NR_146748.2:n.1647C>A
NR_146749.2:n.1621C>A
NR_146750.2:n.1745C>A
NR_146751.2:n.1625C>A
NR_146752.2:n.1689C>A
NR_146753.2:n.1541C>A
NR_146754.2:n.1485C>A
NR_146755.2:n.1749C>A
NR_146756.2:n.1404C>A
NR_146757.2:n.1675C>A
NR_146758.2:n.1404C>A
NR_146759.2:n.1404C>A