Canonical Allele Identifier: CA2697553620

Gene: RARS2

Linked Data

• ClinVar Variation Id: 2712279
• ClinVar RCV Id: RCV003545746

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.87515030del , CM000668.2:g.87515030del	GRCh38
NC_000006.11:g.88224748del , CM000668.1:g.88224748del	GRCh37
NC_000006.10:g.88281467del	NCBI36
NG_008601.1:g.79989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000451155.2:c.1176-9del	ENSP00000389656.2:n.1176-9del
ENST00000493269.2:n.3260-9del
ENST00000497828.2:n.5435-9del
ENST00000684790.1:c.*593-9del	ENSP00000509974.1:n.*593-9del
ENST00000685069.1:c.*89-9del	ENSP00000509876.1:n.*89-9del
ENST00000685219.1:n.1988-9del
ENST00000685336.1:c.*1010-9del	ENSP00000508757.1:n.*1010-9del
ENST00000685376.1:c.*709-9del	ENSP00000508661.1:n.*709-9del
ENST00000685408.1:c.1062-9del	ENSP00000509026.1:n.1062-9del
ENST00000685701.1:c.648-9del	ENSP00000509573.1:n.648-9del
ENST00000685881.1:c.*89-9del	ENSP00000510572.1:n.*89-9del
ENST00000686142.1:c.*89-9del	ENSP00000510793.1:n.*89-9del
ENST00000686154.1:c.648-9del	ENSP00000508436.1:n.648-9del
ENST00000686284.1:c.648-9del	ENSP00000510099.1:n.648-9del
ENST00000686371.1:n.1089-9del
ENST00000686407.1:c.648-9del	ENSP00000509880.1:n.648-9del
ENST00000686857.1:c.*503-9del	ENSP00000509934.1:n.*503-9del
ENST00000686988.1:c.1685-9del	ENSP00000508830.1:n.1685-9del
ENST00000687090.1:n.2317-9del
ENST00000687437.1:c.1677-9del	ENSP00000508968.1:n.1677-9del
ENST00000687579.1:c.*633-9del	ENSP00000510257.1:n.*633-9del
ENST00000687586.1:c.510-9del	ENSP00000508441.1:n.510-9del
ENST00000687729.1:c.1005-9del	ENSP00000508582.1:n.1005-9del
ENST00000687909.1:c.*997-9del	ENSP00000508659.1:n.*997-9del
ENST00000688106.1:c.*89-9del	ENSP00000509529.1:n.*89-9del
ENST00000688391.1:n.2095-9del
ENST00000688532.1:c.624-9del	ENSP00000510320.1:n.624-9del
ENST00000688808.1:n.2458-9del
ENST00000689174.1:c.1062-9del	ENSP00000510542.1:n.1062-9del
ENST00000689206.1:c.648-9del	ENSP00000510495.1:n.648-9del
ENST00000689561.1:n.2603-9del
ENST00000689594.1:n.2579-9del
ENST00000689952.1:c.*925-9del	ENSP00000508977.1:n.*925-9del
ENST00000690205.1:c.*1465-9del	ENSP00000508972.1:n.*1465-9del
ENST00000690622.1:c.648-9del	ENSP00000508528.1:n.648-9del
ENST00000690705.1:c.*503-9del	ENSP00000509923.1:n.*503-9del
ENST00000690884.1:c.*503-9del	ENSP00000509931.1:n.*503-9del
ENST00000691205.1:n.2918-9del
ENST00000691238.1:c.*709-9del	ENSP00000510094.1:n.*709-9del
ENST00000691533.1:n.3276-9del
ENST00000691634.1:n.1468-9del
ENST00000691725.1:c.1587-9del	ENSP00000509453.1:n.1587-9del
ENST00000691815.1:c.*503-9del	ENSP00000509579.1:n.*503-9del
ENST00000692270.1:c.*503-9del	ENSP00000510055.1:n.*503-9del
ENST00000692394.1:c.366-9del	ENSP00000509567.1:n.366-9del
ENST00000692684.1:c.1062-9del	ENSP00000509712.1:n.1062-9del
ENST00000692843.1:c.*574-9del	ENSP00000509592.1:n.*574-9del
ENST00000693327.1:c.1062-9del	ENSP00000509195.1:n.1062-9del
ENST00000693431.1:c.1062-9del	ENSP00000509147.1:n.1062-9del
ENST00000693605.1:c.*503-9del	ENSP00000510050.1:n.*503-9del
ENST00000369536.10:c.1587-9del MANE Select	ENSP00000358549.5:n.1587-9del
ENST00000369536.9:c.1587-9del	ENSP00000358549.5:n.1587-9del
ENST00000493269.1:n.190-9del
NM_020320.3:c.1587-9del	NP_064716.2:n.1587-9del
XM_005248735.3:c.1062-9del	XP_005248792.2:n.1062-9del
XM_005248736.3:c.1062-9del	XP_005248793.2:n.1062-9del
XM_005248737.3:c.1062-9del	XP_005248794.2:n.1062-9del
XM_011535947.1:c.1587-9del	XP_011534249.1:n.1587-9del
XM_011535948.1:c.1587-9del	XP_011534250.1:n.1587-9del
XM_011535950.1:c.1062-9del	XP_011534252.1:n.1062-9del
XM_011535951.1:c.1062-9del	XP_011534253.1:n.1062-9del
XM_011535952.1:c.648-9del	XP_011534254.1:n.648-9del
XM_011535953.1:c.648-9del	XP_011534255.1:n.648-9del
XM_011535954.1:c.648-9del	XP_011534256.1:n.648-9del
XM_011535955.1:c.648-9del	XP_011534257.1:n.648-9del
XR_241848.1:n.1643-9del
NM_001318785.1:c.1062-9del	NP_001305714.1:n.1062-9del
NM_001350505.1:c.1587-9del	NP_001337434.1:n.1587-9del
NM_001350506.1:c.1062-9del	NP_001337435.1:n.1062-9del
NM_001350507.1:c.1062-9del	NP_001337436.1:n.1062-9del
NM_001350508.1:c.1062-9del	NP_001337437.1:n.1062-9del
NM_001350509.1:c.1062-9del	NP_001337438.1:n.1062-9del
NM_001350510.1:c.1062-9del	NP_001337439.1:n.1062-9del
NM_001350511.1:c.1062-9del	NP_001337440.1:n.1062-9del
NM_020320.4:c.1587-9del	NP_064716.2:n.1587-9del
NR_134857.1:n.1658-9del
NR_146738.1:n.1930-9del
NR_146739.1:n.1739-9del
NR_146740.1:n.2007-9del
NR_146741.1:n.1669-9del
NR_146742.1:n.2041-9del
NR_146743.1:n.1879-9del
NR_146744.1:n.2018-9del
NR_146745.1:n.1666-9del
NR_146746.1:n.2112-9del
NR_146747.1:n.1445-9del
NR_146748.1:n.1905-9del
NR_146749.1:n.1879-9del
NR_146750.1:n.2003-9del
NR_146751.1:n.1894-9del
NR_146752.1:n.1947-9del
NR_146753.1:n.1799-9del
NR_146754.1:n.1743-9del
NR_146755.1:n.2007-9del
NR_146756.1:n.1673-9del
NR_146757.1:n.1933-9del
NR_146758.1:n.1662-9del
NR_146759.1:n.1662-9del
XM_017011073.1:c.1062-9del	XP_016866562.1:n.1062-9del
XM_017011074.2:c.1062-9del	XP_016866563.1:n.1062-9del
XM_017011075.2:c.1062-9del	XP_016866564.1:n.1062-9del
XM_017011076.2:c.1062-9del	XP_016866565.1:n.1062-9del
XM_017011077.2:c.1062-9del	XP_016866566.1:n.1062-9del
XM_017011078.2:c.1062-9del	XP_016866567.1:n.1062-9del
XM_024446494.1:c.1062-9del	XP_024302262.1:n.1062-9del
NM_020320.5:c.1587-9del MANE Select	NP_064716.2:n.1587-9del
NM_001318785.2:c.1062-9del	NP_001305714.1:n.1062-9del
NM_001350505.2:c.1587-9del	NP_001337434.1:n.1587-9del
NM_001350506.2:c.1062-9del	NP_001337435.1:n.1062-9del
NM_001350507.2:c.1062-9del	NP_001337436.1:n.1062-9del
NM_001350508.2:c.1062-9del	NP_001337437.1:n.1062-9del
NM_001350509.2:c.1062-9del	NP_001337438.1:n.1062-9del
NM_001350510.2:c.1062-9del	NP_001337439.1:n.1062-9del
NM_001350511.2:c.1062-9del	NP_001337440.1:n.1062-9del
NR_134857.2:n.1613-9del
NR_146738.2:n.1885-9del
NR_146739.2:n.1694-9del
NR_146740.2:n.1962-9del
NR_146741.2:n.1624-9del
NR_146742.2:n.1996-9del
NR_146743.2:n.1834-9del
NR_146744.2:n.1973-9del
NR_146745.2:n.1621-9del
NR_146746.2:n.2067-9del
NR_146747.2:n.1400-9del
NR_146748.2:n.1860-9del
NR_146749.2:n.1834-9del
NR_146750.2:n.1958-9del
NR_146751.2:n.1849-9del
NR_146752.2:n.1902-9del
NR_146753.2:n.1754-9del
NR_146754.2:n.1698-9del
NR_146755.2:n.1962-9del
NR_146756.2:n.1628-9del
NR_146757.2:n.1888-9del
NR_146758.2:n.1617-9del
NR_146759.2:n.1617-9del