Canonical Allele Identifier: CA289191

Gene: AARS2 TMEM151B POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44268371T>T (hg19) ; chr6:g.44300634T>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300634T= , CM000668.2:g.44300634T=	GRCh38
NC_000006.11:g.44268371T= , CM000668.1:g.44268371T=	GRCh37
NC_000006.10:g.44376349T=	NCBI36
NG_031952.1:g.17693A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2871A= (AARS2) MANE Select	ENSP00000244571.4:p.Ser957=
ENST00000244571.4:c.2871A= (AARS2)	ENSP00000244571.4:p.Ser957=
ENST00000438774.2:c.577-6309T= (TMEM151B)	ENSP00000409337.2:n.577-6309T=
ENST00000491573.1:n.673A= (AARS2)
ENST00000505802.1:c.314-6309T=
NM_020745.3:c.2871A= (AARS2)	NP_065796.1:p.Ser957=
XM_005249245.2:c.2580A= (AARS2)	XP_005249302.1:p.Ser860=
XM_011514764.1:c.2793+522A= (AARS2)	XP_011513066.1:n.2793+522A=
XR_241907.2:n.2796A= (AARS2)
XM_005249245.3:c.2580A= (AARS2)	XP_005249302.1:p.Ser860=
XM_011514764.2:c.2793+522A= (AARS2)	XP_011513066.1:n.2793+522A=
XM_017011112.1:c.1581A= (AARS2)	XP_016866601.1:p.Ser527=
NM_020745.4:c.2871A= (AARS2) MANE Select	NP_065796.2:p.Ser957=
NM_001318876.2:c.946-141256T= (POLR1C)	NP_001305805.1:n.946-141256T=