Canonical Allele Identifier: CA1624923220

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302452A= , CM000668.2:g.44302452A=	GRCh38
NC_000006.11:g.44270189A= , CM000668.1:g.44270189A=	GRCh37
NC_000006.10:g.44378167A=	NCBI36
NG_031952.1:g.15875T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2426T= (AARS2) MANE Select	ENSP00000244571.4:p.Leu809=
ENST00000244571.4:c.2426T= (AARS2)	ENSP00000244571.4:p.Leu809=
ENST00000438774.2:c.577-4491A= (TMEM151B)	ENSP00000409337.2:n.577-4491A=
ENST00000505802.1:c.314-4491A=
NM_020745.3:c.2426T= (AARS2)	NP_065796.1:p.Leu809=
XM_005249245.2:c.2135T= (AARS2)	XP_005249302.1:p.Leu712=
XM_011514764.1:c.2426T= (AARS2)	XP_011513066.1:p.Leu809=
XR_241907.2:n.2351T= (AARS2)
XM_005249245.3:c.2135T= (AARS2)	XP_005249302.1:p.Leu712=
XM_011514764.2:c.2426T= (AARS2)	XP_011513066.1:p.Leu809=
XM_017011112.1:c.1136T= (AARS2)	XP_016866601.1:p.Leu379=
NM_020745.4:c.2426T= (AARS2) MANE Select	NP_065796.2:p.Leu809=
NM_001318876.2:c.946-139438A= (POLR1C)	NP_001305805.1:n.946-139438A=