Canonical Allele Identifier: CA1624930468

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44307020C= , CM000668.2:g.44307020C=	GRCh38
NC_000006.11:g.44274757C= , CM000668.1:g.44274757C=	GRCh37
NC_000006.10:g.44382735C=	NCBI36
NG_031952.1:g.11307G=

Transcript Alleles

HGVS	Amino-acid Change
NM_020745.4:c.1052G= (AARS2) MANE Select	NP_065796.2:p.Arg351=
ENST00000244571.5:c.1052G= (AARS2) MANE Select	ENSP00000244571.4:p.Arg351=
NM_001318876.2:c.946-134870C= (POLR1C)	NP_001305805.1:n.946-134870C=
NM_020745.3:c.1052G= (AARS2)	NP_065796.1:p.Arg351=
ENST00000244571.4:c.1052G= (AARS2)	ENSP00000244571.4:p.Arg351=
ENST00000438774.2:c.654C= (TMEM151B)	ENSP00000409337.2:p.Asp218=
ENST00000505802.1:c.391C=
XM_005249245.2:c.761G= (AARS2)	XP_005249302.1:p.Arg254=
XM_005249245.3:c.761G= (AARS2)	XP_005249302.1:p.Arg254=
XM_011514764.1:c.1052G= (AARS2)	XP_011513066.1:p.Arg351=
XM_011514764.2:c.1052G= (AARS2)	XP_011513066.1:p.Arg351=
XM_017011112.1:c.-258G= (AARS2)	XP_016866601.1:n.-258G=
XR_241907.2:n.1087G= (AARS2)
XR_926837.1:n.78C=