Canonical Allele Identifier: CA2539538579

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311079_44311080insTTATGGTGACATGAATGGTGATGGGGCTAATGGTAATGACTTGATGTGGATACCAACAGATGCTCAAATCGATCGCATGAAAT , CM000668.2:g.44311079_44311080insTTATGGTGACATGAATGGTGATGGGGCTAATGGTAATGACTTGATGTGGATACCAACAGATGCTCAAATCGATCGCATGAAAT	GRCh38
NC_000006.11:g.44278816_44278817insTTATGGTGACATGAATGGTGATGGGGCTAATGGTAATGACTTGATGTGGATACCAACAGATGCTCAAATCGATCGCATGAAAT , CM000668.1:g.44278816_44278817insTTATGGTGACATGAATGGTGATGGGGCTAATGGTAATGACTTGATGTGGATACCAACAGATGCTCAAATCGATCGCATGAAAT	GRCh37
NC_000006.10:g.44386794_44386795insTTATGGTGACATGAATGGTGATGGGGCTAATGGTAATGACTTGATGTGGATACCAACAGATGCTCAAATCGATCGCATGAAAT	NCBI36
NG_031952.1:g.7248_7249insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.664_665insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA (AARS2) MANE Select	ENSP00000244571.4:p.Thr222IlefsTer19
ENST00000244571.4:c.664_665insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA (AARS2)	ENSP00000244571.4:p.Thr222IlefsTer19
ENST00000505802.1:c.855+3437_855+3438insTTATGGTGACATGAATGGTGATGGGGCTAATGGTAATGACTTGATGTGGATACCAACAGATGCTCAAATCGATCGCATGAAAT
NM_020745.3:c.664_665insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA (AARS2)	NP_065796.1:p.Thr222IlefsTer19
XM_005249245.2:c.664_665insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA (AARS2)	XP_005249302.1:p.Thr222IlefsTer19
XM_011514764.1:c.664_665insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA (AARS2)	XP_011513066.1:p.Thr222IlefsTer19
XR_241907.2:n.699_700insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA (AARS2)
XM_005249245.3:c.664_665insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA (AARS2)	XP_005249302.1:p.Thr222IlefsTer19
XM_011514764.2:c.664_665insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA (AARS2)	XP_011513066.1:p.Thr222IlefsTer19
XM_017011112.1:c.-355_-354insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA (AARS2)	XP_016866601.1:n.-355_-354insTTTCATGCGATCGATTTGAGCATCTGTTGGTA...
NM_020745.4:c.664_665insTTTCATGCGATCGATTTGAGCATCTGTTGGTATCCACATCAAGTCATTACCATTAGCCCCATCACCATTCATGTCACCATAAA (AARS2) MANE Select	NP_065796.2:p.Thr222IlefsTer19
NM_001318876.2:c.946-130811_946-130810insTTATGGTGACATGAATGGTGATGGGGCTAATGGTAATGACTTGATGTGGATACCAACAGATGCTCAAATCGATCGCATGAAAT (POLR1C)	NP_001305805.1:n.946-130811_946-130810insTTATGGTGACATGAATGGTG...