Canonical Allele Identifier: CA1624924107

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303154C= , CM000668.2:g.44303154C=	GRCh38
NC_000006.11:g.44270891C= , CM000668.1:g.44270891C=	GRCh37
NC_000006.10:g.44378869C=	NCBI36
NG_031952.1:g.15173G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2167G= (AARS2) MANE Select	ENSP00000244571.4:p.Val723=
ENST00000244571.4:c.2167G= (AARS2)	ENSP00000244571.4:p.Val723=
ENST00000438774.2:c.577-3789C= (TMEM151B)	ENSP00000409337.2:n.577-3789C=
ENST00000505802.1:c.314-3789C=
NM_020745.3:c.2167G= (AARS2)	NP_065796.1:p.Val723=
XM_005249245.2:c.1876G= (AARS2)	XP_005249302.1:p.Val626=
XM_011514764.1:c.2167G= (AARS2)	XP_011513066.1:p.Val723=
XR_241907.2:n.2180+132G= (AARS2)
XM_005249245.3:c.1876G= (AARS2)	XP_005249302.1:p.Val626=
XM_011514764.2:c.2167G= (AARS2)	XP_011513066.1:p.Val723=
XM_017011112.1:c.877G= (AARS2)	XP_016866601.1:p.Val293=
NM_020745.4:c.2167G= (AARS2) MANE Select	NP_065796.2:p.Val723=
NM_001318876.2:c.946-138736C= (POLR1C)	NP_001305805.1:n.946-138736C=