Canonical Allele Identifier: CA3916286

Gene: RARS2

Linked Data

• dbSNP Id: rs751624778
• ExAC: 6:88228306 AAGCACAGTGC / A
• gnomAD v2: 6-88228306-AAGCACAGTGC-A
• gnomAD v4: 6-87518588-AAGCACAGTGC-A
• MyVariant Identifiers: chr6:g.88228307_88228316del (hg19) ; chr6:g.87518589_87518598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.87518595_87518604del , CM000668.2:g.87518595_87518604del	GRCh38
NC_000006.11:g.88228313_88228322del , CM000668.1:g.88228313_88228322del	GRCh37
NC_000006.10:g.88285032_88285041del	NCBI36
NG_008601.1:g.76420_76429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000451155.2:c.890+32_890+41del	ENSP00000389656.2:n.890+32_890+41del
ENST00000493269.2:n.1467_1476del
ENST00000497828.2:n.3642_3651del
ENST00000684790.1:c.*421+32_*421+41del	ENSP00000509974.1:n.*421+32_*421+41del
ENST00000685069.1:c.476+32_476+41del	ENSP00000509876.1:n.476+32_476+41del
ENST00000685219.1:n.1483_1492del
ENST00000685336.1:c.*838+32_*838+41del	ENSP00000508757.1:n.*838+32_*838+41del
ENST00000685376.1:c.*537+32_*537+41del	ENSP00000508661.1:n.*537+32_*537+41del
ENST00000685408.1:c.890+32_890+41del	ENSP00000509026.1:n.890+32_890+41del
ENST00000685701.1:c.476+32_476+41del	ENSP00000509573.1:n.476+32_476+41del
ENST00000685881.1:c.890+32_890+41del	ENSP00000510572.1:n.890+32_890+41del
ENST00000686142.1:c.890+32_890+41del	ENSP00000510793.1:n.890+32_890+41del
ENST00000686154.1:c.476+32_476+41del	ENSP00000508436.1:n.476+32_476+41del
ENST00000686196.1:n.1660+32_1660+41del
ENST00000686284.1:c.476+32_476+41del	ENSP00000510099.1:n.476+32_476+41del
ENST00000686371.1:n.917+32_917+41del
ENST00000686407.1:c.476+32_476+41del	ENSP00000509880.1:n.476+32_476+41del
ENST00000686857.1:c.*331+32_*331+41del	ENSP00000509934.1:n.*331+32_*331+41del
ENST00000686988.1:c.1513+32_1513+41del	ENSP00000508830.1:n.1513+32_1513+41del
ENST00000687090.1:n.1812_1821del
ENST00000687437.1:c.1415+32_1415+41del	ENSP00000508968.1:n.1415+32_1415+41del
ENST00000687579.1:c.*461+32_*461+41del	ENSP00000510257.1:n.*461+32_*461+41del
ENST00000687586.1:c.338+32_338+41del	ENSP00000508441.1:n.338+32_338+41del
ENST00000687729.1:c.833+32_833+41del	ENSP00000508582.1:n.833+32_833+41del
ENST00000687909.1:c.*825+32_*825+41del	ENSP00000508659.1:n.*825+32_*825+41del
ENST00000688106.1:c.476+32_476+41del	ENSP00000509529.1:n.476+32_476+41del
ENST00000688391.1:n.1923+32_1923+41del
ENST00000688532.1:c.338+32_338+41del	ENSP00000510320.1:n.338+32_338+41del
ENST00000688808.1:n.1953_1962del
ENST00000688842.1:n.3889+32_3889+41del
ENST00000689174.1:c.890+32_890+41del	ENSP00000510542.1:n.890+32_890+41del
ENST00000689206.1:c.476+32_476+41del	ENSP00000510495.1:n.476+32_476+41del
ENST00000689561.1:n.2431+32_2431+41del
ENST00000689594.1:n.2407+32_2407+41del
ENST00000689952.1:c.*753+32_*753+41del	ENSP00000508977.1:n.*753+32_*753+41del
ENST00000690205.1:c.*1293+32_*1293+41del	ENSP00000508972.1:n.*1293+32_*1293+41del
ENST00000690622.1:c.476+32_476+41del	ENSP00000508528.1:n.476+32_476+41del
ENST00000690705.1:c.*331+32_*331+41del	ENSP00000509923.1:n.*331+32_*331+41del
ENST00000690884.1:c.*331+32_*331+41del	ENSP00000509931.1:n.*331+32_*331+41del
ENST00000691205.1:n.2413_2422del
ENST00000691238.1:c.*537+32_*537+41del	ENSP00000510094.1:n.*537+32_*537+41del
ENST00000691533.1:n.1483_1492del
ENST00000691634.1:n.1296+32_1296+41del
ENST00000691725.1:c.1415+32_1415+41del	ENSP00000509453.1:n.1415+32_1415+41del
ENST00000691815.1:c.*331+32_*331+41del	ENSP00000509579.1:n.*331+32_*331+41del
ENST00000692270.1:c.*331+32_*331+41del	ENSP00000510055.1:n.*331+32_*331+41del
ENST00000692394.1:c.194+32_194+41del	ENSP00000509567.1:n.194+32_194+41del
ENST00000692684.1:c.890+32_890+41del	ENSP00000509712.1:n.890+32_890+41del
ENST00000692843.1:c.*402+32_*402+41del	ENSP00000509592.1:n.*402+32_*402+41del
ENST00000693327.1:c.890+32_890+41del	ENSP00000509195.1:n.890+32_890+41del
ENST00000693431.1:c.890+32_890+41del	ENSP00000509147.1:n.890+32_890+41del
ENST00000693605.1:c.*331+32_*331+41del	ENSP00000510050.1:n.*331+32_*331+41del
ENST00000369536.10:c.1415+32_1415+41del MANE Select	ENSP00000358549.5:n.1415+32_1415+41del
ENST00000369536.9:c.1415+32_1415+41del	ENSP00000358549.5:n.1415+32_1415+41del
ENST00000497828.1:n.550_559del
NM_020320.3:c.1415+32_1415+41del	NP_064716.2:n.1415+32_1415+41del
XM_005248735.3:c.890+32_890+41del	XP_005248792.2:n.890+32_890+41del
XM_005248736.3:c.890+32_890+41del	XP_005248793.2:n.890+32_890+41del
XM_005248737.3:c.890+32_890+41del	XP_005248794.2:n.890+32_890+41del
XM_011535947.1:c.1415+32_1415+41del	XP_011534249.1:n.1415+32_1415+41del
XM_011535948.1:c.1415+32_1415+41del	XP_011534250.1:n.1415+32_1415+41del
XM_011535949.1:c.1415+32_1415+41del	XP_011534251.1:n.1415+32_1415+41del
XM_011535950.1:c.890+32_890+41del	XP_011534252.1:n.890+32_890+41del
XM_011535951.1:c.890+32_890+41del	XP_011534253.1:n.890+32_890+41del
XM_011535952.1:c.476+32_476+41del	XP_011534254.1:n.476+32_476+41del
XM_011535953.1:c.476+32_476+41del	XP_011534255.1:n.476+32_476+41del
XM_011535954.1:c.476+32_476+41del	XP_011534256.1:n.476+32_476+41del
XM_011535955.1:c.476+32_476+41del	XP_011534257.1:n.476+32_476+41del
XR_241848.1:n.1471+32_1471+41del
NM_001318785.1:c.890+32_890+41del	NP_001305714.1:n.890+32_890+41del
NM_001350505.1:c.1415+32_1415+41del	NP_001337434.1:n.1415+32_1415+41del
NM_001350506.1:c.890+32_890+41del	NP_001337435.1:n.890+32_890+41del
NM_001350507.1:c.890+32_890+41del	NP_001337436.1:n.890+32_890+41del
NM_001350508.1:c.890+32_890+41del	NP_001337437.1:n.890+32_890+41del
NM_001350509.1:c.890+32_890+41del	NP_001337438.1:n.890+32_890+41del
NM_001350510.1:c.890+32_890+41del	NP_001337439.1:n.890+32_890+41del
NM_001350511.1:c.890+32_890+41del	NP_001337440.1:n.890+32_890+41del
NM_020320.4:c.1415+32_1415+41del	NP_064716.2:n.1415+32_1415+41del
NR_134857.1:n.1486+32_1486+41del
NR_146738.1:n.1758+32_1758+41del
NR_146739.1:n.1567+32_1567+41del
NR_146740.1:n.1835+32_1835+41del
NR_146741.1:n.1497+32_1497+41del
NR_146742.1:n.1869+32_1869+41del
NR_146743.1:n.1707+32_1707+41del
NR_146744.1:n.1835+32_1835+41del
NR_146745.1:n.1494+32_1494+41del
NR_146746.1:n.1929+32_1929+41del
NR_146747.1:n.1273+32_1273+41del
NR_146748.1:n.1733+32_1733+41del
NR_146749.1:n.1707+32_1707+41del
NR_146750.1:n.1831+32_1831+41del
NR_146751.1:n.1711+32_1711+41del
NR_146752.1:n.1775+32_1775+41del
NR_146753.1:n.1627+32_1627+41del
NR_146754.1:n.1571+32_1571+41del
NR_146755.1:n.1835+32_1835+41del
NR_146756.1:n.1490+32_1490+41del
NR_146757.1:n.1761+32_1761+41del
NR_146758.1:n.1490+32_1490+41del
NR_146759.1:n.1490+32_1490+41del
XM_011535949.3:c.1415+32_1415+41del	XP_011534251.1:n.1415+32_1415+41del
XM_017011073.1:c.890+32_890+41del	XP_016866562.1:n.890+32_890+41del
XM_017011074.2:c.890+32_890+41del	XP_016866563.1:n.890+32_890+41del
XM_017011075.2:c.890+32_890+41del	XP_016866564.1:n.890+32_890+41del
XM_017011076.2:c.890+32_890+41del	XP_016866565.1:n.890+32_890+41del
XM_017011077.2:c.890+32_890+41del	XP_016866566.1:n.890+32_890+41del
XM_017011078.2:c.890+32_890+41del	XP_016866567.1:n.890+32_890+41del
XM_024446494.1:c.890+32_890+41del	XP_024302262.1:n.890+32_890+41del
NM_020320.5:c.1415+32_1415+41del MANE Select	NP_064716.2:n.1415+32_1415+41del
NM_001318785.2:c.890+32_890+41del	NP_001305714.1:n.890+32_890+41del
NM_001350505.2:c.1415+32_1415+41del	NP_001337434.1:n.1415+32_1415+41del
NM_001350506.2:c.890+32_890+41del	NP_001337435.1:n.890+32_890+41del
NM_001350507.2:c.890+32_890+41del	NP_001337436.1:n.890+32_890+41del
NM_001350508.2:c.890+32_890+41del	NP_001337437.1:n.890+32_890+41del
NM_001350509.2:c.890+32_890+41del	NP_001337438.1:n.890+32_890+41del
NM_001350510.2:c.890+32_890+41del	NP_001337439.1:n.890+32_890+41del
NM_001350511.2:c.890+32_890+41del	NP_001337440.1:n.890+32_890+41del
NR_134857.2:n.1441+32_1441+41del
NR_146738.2:n.1713+32_1713+41del
NR_146739.2:n.1522+32_1522+41del
NR_146740.2:n.1790+32_1790+41del
NR_146741.2:n.1452+32_1452+41del
NR_146742.2:n.1824+32_1824+41del
NR_146743.2:n.1662+32_1662+41del
NR_146744.2:n.1790+32_1790+41del
NR_146745.2:n.1449+32_1449+41del
NR_146746.2:n.1884+32_1884+41del
NR_146747.2:n.1228+32_1228+41del
NR_146748.2:n.1688+32_1688+41del
NR_146749.2:n.1662+32_1662+41del
NR_146750.2:n.1786+32_1786+41del
NR_146751.2:n.1666+32_1666+41del
NR_146752.2:n.1730+32_1730+41del
NR_146753.2:n.1582+32_1582+41del
NR_146754.2:n.1526+32_1526+41del
NR_146755.2:n.1790+32_1790+41del
NR_146756.2:n.1445+32_1445+41del
NR_146757.2:n.1716+32_1716+41del
NR_146758.2:n.1445+32_1445+41del
NR_146759.2:n.1445+32_1445+41del