Canonical Allele Identifier: CA1624929266

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311421G= , CM000668.2:g.44311421G=	GRCh38
NC_000006.11:g.44279158G= , CM000668.1:g.44279158G=	GRCh37
NC_000006.10:g.44387136G=	NCBI36
NG_031952.1:g.6906C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.550C= (AARS2) MANE Select	ENSP00000244571.4:p.Leu184=
ENST00000244571.4:c.550C= (AARS2)	ENSP00000244571.4:p.Leu184=
ENST00000505802.1:c.855+3779G=
NM_020745.3:c.550C= (AARS2)	NP_065796.1:p.Leu184=
XM_005249245.2:c.550C= (AARS2)	XP_005249302.1:p.Leu184=
XM_011514764.1:c.550C= (AARS2)	XP_011513066.1:p.Leu184=
XR_241907.2:n.585C= (AARS2)
XM_005249245.3:c.550C= (AARS2)	XP_005249302.1:p.Leu184=
XM_011514764.2:c.550C= (AARS2)	XP_011513066.1:p.Leu184=
XM_017011112.1:c.-469C= (AARS2)	XP_016866601.1:n.-469C=
NM_020745.4:c.550C= (AARS2) MANE Select	NP_065796.2:p.Leu184=
NM_001318876.2:c.946-130469G= (POLR1C)	NP_001305805.1:n.946-130469G=