Canonical Allele Identifier: CA1624928943

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311179_44311181delinsTGA , CM000668.2:g.44311179_44311181delinsTGA	GRCh38
NC_000006.11:g.44278916_44278918delinsTGA , CM000668.1:g.44278916_44278918delinsTGA	GRCh37
NC_000006.10:g.44386894_44386896delinsTGA	NCBI36
NG_031952.1:g.7146_7148delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.582-20_582-18delinsTCA (AARS2) MANE Select	ENSP00000244571.4:n.582-20_582-18delinsTCA
ENST00000244571.4:c.582-20_582-18delinsTCA (AARS2)	ENSP00000244571.4:n.582-20_582-18delinsTCA
ENST00000505802.1:c.855+3537_855+3539delinsTGA
NM_020745.3:c.582-20_582-18delinsTCA (AARS2)	NP_065796.1:n.582-20_582-18delinsTCA
XM_005249245.2:c.582-20_582-18delinsTCA (AARS2)	XP_005249302.1:n.582-20_582-18delinsTCA
XM_011514764.1:c.582-20_582-18delinsTCA (AARS2)	XP_011513066.1:n.582-20_582-18delinsTCA
XR_241907.2:n.617-20_617-18delinsTCA (AARS2)
XM_005249245.3:c.582-20_582-18delinsTCA (AARS2)	XP_005249302.1:n.582-20_582-18delinsTCA
XM_011514764.2:c.582-20_582-18delinsTCA (AARS2)	XP_011513066.1:n.582-20_582-18delinsTCA
XM_017011112.1:c.-437-20_-437-18delinsTCA (AARS2)	XP_016866601.1:n.-437-20_-437-18delinsTCA
NM_020745.4:c.582-20_582-18delinsTCA (AARS2) MANE Select	NP_065796.2:n.582-20_582-18delinsTCA
NM_001318876.2:c.946-130711_946-130709delinsTGA (POLR1C)	NP_001305805.1:n.946-130711_946-130709delinsTGA