Canonical Allele Identifier: CA450391511

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44311152-A-G
• MyVariant Identifiers: chr6:g.44278889A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311152A>G , CM000668.2:g.44311152A>G	GRCh38
NC_000006.11:g.44278889A>G , CM000668.1:g.44278889A>G	GRCh37
NC_000006.10:g.44386867A>G	NCBI36
NG_031952.1:g.7175T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.591T>C (AARS2) MANE Select	ENSP00000244571.4:p.Ala197=
ENST00000244571.4:c.591T>C (AARS2)	ENSP00000244571.4:p.Ala197=
ENST00000505802.1:c.855+3510A>G
NM_020745.3:c.591T>C (AARS2)	NP_065796.1:p.Ala197=
XM_005249245.2:c.591T>C (AARS2)	XP_005249302.1:p.Ala197=
XM_011514764.1:c.591T>C (AARS2)	XP_011513066.1:p.Ala197=
XR_241907.2:n.626T>C (AARS2)
XM_005249245.3:c.591T>C (AARS2)	XP_005249302.1:p.Ala197=
XM_011514764.2:c.591T>C (AARS2)	XP_011513066.1:p.Ala197=
XM_017011112.1:c.-428T>C (AARS2)	XP_016866601.1:n.-428T>C
NM_020745.4:c.591T>C (AARS2) MANE Select	NP_065796.2:p.Ala197=
NM_001318876.2:c.946-130738A>G (POLR1C)	NP_001305805.1:n.946-130738A>G