Canonical Allele Identifier: CA1624928968

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311189_44311193delinsGAGAC , CM000668.2:g.44311189_44311193delinsGAGAC	GRCh38
NC_000006.11:g.44278926_44278930delinsGAGAC , CM000668.1:g.44278926_44278930delinsGAGAC	GRCh37
NC_000006.10:g.44386904_44386908delinsGAGAC	NCBI36
NG_031952.1:g.7134_7138delinsGTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.582-32_582-28delinsGTCTC (AARS2) MANE Select	ENSP00000244571.4:n.582-32_582-28delinsGTCTC
ENST00000244571.4:c.582-32_582-28delinsGTCTC (AARS2)	ENSP00000244571.4:n.582-32_582-28delinsGTCTC
ENST00000505802.1:c.855+3547_855+3551delinsGAGAC
NM_020745.3:c.582-32_582-28delinsGTCTC (AARS2)	NP_065796.1:n.582-32_582-28delinsGTCTC
XM_005249245.2:c.582-32_582-28delinsGTCTC (AARS2)	XP_005249302.1:n.582-32_582-28delinsGTCTC
XM_011514764.1:c.582-32_582-28delinsGTCTC (AARS2)	XP_011513066.1:n.582-32_582-28delinsGTCTC
XR_241907.2:n.617-32_617-28delinsGTCTC (AARS2)
XM_005249245.3:c.582-32_582-28delinsGTCTC (AARS2)	XP_005249302.1:n.582-32_582-28delinsGTCTC
XM_011514764.2:c.582-32_582-28delinsGTCTC (AARS2)	XP_011513066.1:n.582-32_582-28delinsGTCTC
XM_017011112.1:c.-437-32_-437-28delinsGTCTC (AARS2)	XP_016866601.1:n.-437-32_-437-28delinsGTCTC
NM_020745.4:c.582-32_582-28delinsGTCTC (AARS2) MANE Select	NP_065796.2:n.582-32_582-28delinsGTCTC
NM_001318876.2:c.946-130701_946-130697delinsGAGAC (POLR1C)	NP_001305805.1:n.946-130701_946-130697delinsGAGAC