Canonical Allele Identifier: CA1624929148

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311370_44311373delinsTAAG , CM000668.2:g.44311370_44311373delinsTAAG	GRCh38
NC_000006.11:g.44279107_44279110delinsTAAG , CM000668.1:g.44279107_44279110delinsTAAG	GRCh37
NC_000006.10:g.44387085_44387088delinsTAAG	NCBI36
NG_031952.1:g.6954_6957delinsCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.581+17_581+20delinsCTTA (AARS2) MANE Select	ENSP00000244571.4:n.581+17_581+20delinsCTTA
ENST00000244571.4:c.581+17_581+20delinsCTTA (AARS2)	ENSP00000244571.4:n.581+17_581+20delinsCTTA
ENST00000505802.1:c.855+3728_855+3731delinsTAAG
NM_020745.3:c.581+17_581+20delinsCTTA (AARS2)	NP_065796.1:n.581+17_581+20delinsCTTA
XM_005249245.2:c.581+17_581+20delinsCTTA (AARS2)	XP_005249302.1:n.581+17_581+20delinsCTTA
XM_011514764.1:c.581+17_581+20delinsCTTA (AARS2)	XP_011513066.1:n.581+17_581+20delinsCTTA
XR_241907.2:n.616+17_616+20delinsCTTA (AARS2)
XM_005249245.3:c.581+17_581+20delinsCTTA (AARS2)	XP_005249302.1:n.581+17_581+20delinsCTTA
XM_011514764.2:c.581+17_581+20delinsCTTA (AARS2)	XP_011513066.1:n.581+17_581+20delinsCTTA
XM_017011112.1:c.-438+17_-438+20delinsCTTA (AARS2)	XP_016866601.1:n.-438+17_-438+20delinsCTTA
NM_020745.4:c.581+17_581+20delinsCTTA (AARS2) MANE Select	NP_065796.2:n.581+17_581+20delinsCTTA
NM_001318876.2:c.946-130520_946-130517delinsTAAG (POLR1C)	NP_001305805.1:n.946-130520_946-130517delinsTAAG