Canonical Allele Identifier: CA364342036

Gene: AARS2 POLR1C

Linked Data

• ClinVar Variation Id: 2224476
• ClinVar RCV Id: RCV002683416
• gnomAD v4: 6-44313154-C-T
• MyVariant Identifiers: chr6:g.44280891C>T (hg19) ; chr6:g.44313154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313154C>T , CM000668.2:g.44313154C>T	GRCh38
NC_000006.11:g.44280891C>T , CM000668.1:g.44280891C>T	GRCh37
NC_000006.10:g.44388869C>T	NCBI36
NG_031952.1:g.5173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.170G>A (AARS2) MANE Select	ENSP00000244571.4:p.Arg57Gln
ENST00000244571.4:c.170G>A (AARS2)	ENSP00000244571.4:p.Arg57Gln
ENST00000505802.1:c.855+5512C>T
NM_020745.3:c.170G>A (AARS2)	NP_065796.1:p.Arg57Gln
XM_005249245.2:c.170G>A (AARS2)	XP_005249302.1:p.Arg57Gln
XM_011514764.1:c.170G>A (AARS2)	XP_011513066.1:p.Arg57Gln
XR_241907.2:n.205G>A (AARS2)
XM_005249245.3:c.170G>A (AARS2)	XP_005249302.1:p.Arg57Gln
XM_011514764.2:c.170G>A (AARS2)	XP_011513066.1:p.Arg57Gln
XM_017011112.1:c.-849G>A (AARS2)	XP_016866601.1:n.-849G>A
NM_020745.4:c.170G>A (AARS2) MANE Select	NP_065796.2:p.Arg57Gln
NM_001318876.2:c.946-128736C>T (POLR1C)	NP_001305805.1:n.946-128736C>T