Canonical Allele Identifier: CA1624923729

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302888C= , CM000668.2:g.44302888C=	GRCh38
NC_000006.11:g.44270625C= , CM000668.1:g.44270625C=	GRCh37
NC_000006.10:g.44378603C=	NCBI36
NG_031952.1:g.15439G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2278G= (AARS2) MANE Select	ENSP00000244571.4:p.Val760=
ENST00000244571.4:c.2278G= (AARS2)	ENSP00000244571.4:p.Val760=
ENST00000438774.2:c.577-4055C= (TMEM151B)	ENSP00000409337.2:n.577-4055C=
ENST00000505802.1:c.314-4055C=
NM_020745.3:c.2278G= (AARS2)	NP_065796.1:p.Val760=
XM_005249245.2:c.1987G= (AARS2)	XP_005249302.1:p.Val663=
XM_011514764.1:c.2278G= (AARS2)	XP_011513066.1:p.Val760=
XR_241907.2:n.2203G= (AARS2)
XM_005249245.3:c.1987G= (AARS2)	XP_005249302.1:p.Val663=
XM_011514764.2:c.2278G= (AARS2)	XP_011513066.1:p.Val760=
XM_017011112.1:c.988G= (AARS2)	XP_016866601.1:p.Val330=
NM_020745.4:c.2278G= (AARS2) MANE Select	NP_065796.2:p.Val760=
NM_001318876.2:c.946-139002C= (POLR1C)	NP_001305805.1:n.946-139002C=