Canonical Allele Identifier: CA1624928720

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311056A= , CM000668.2:g.44311056A=	GRCh38
NC_000006.11:g.44278793A= , CM000668.1:g.44278793A=	GRCh37
NC_000006.10:g.44386771A=	NCBI36
NG_031952.1:g.7271T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.687T= (AARS2) MANE Select	ENSP00000244571.4:p.Ala229=
ENST00000244571.4:c.687T= (AARS2)	ENSP00000244571.4:p.Ala229=
ENST00000505802.1:c.855+3414A=
NM_020745.3:c.687T= (AARS2)	NP_065796.1:p.Ala229=
XM_005249245.2:c.687T= (AARS2)	XP_005249302.1:p.Ala229=
XM_011514764.1:c.687T= (AARS2)	XP_011513066.1:p.Ala229=
XR_241907.2:n.722T= (AARS2)
XM_005249245.3:c.687T= (AARS2)	XP_005249302.1:p.Ala229=
XM_011514764.2:c.687T= (AARS2)	XP_011513066.1:p.Ala229=
XM_017011112.1:c.-332T= (AARS2)	XP_016866601.1:n.-332T=
NM_020745.4:c.687T= (AARS2) MANE Select	NP_065796.2:p.Ala229=
NM_001318876.2:c.946-130834A= (POLR1C)	NP_001305805.1:n.946-130834A=