Canonical Allele Identifier: CA138396240

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs537231845
• gnomAD v4: 6-44313299-C-G
• MyVariant Identifiers: chr6:g.44281036C>G (hg19) ; chr6:g.44313299C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313299C>G , CM000668.2:g.44313299C>G	GRCh38
NC_000006.11:g.44281036C>G , CM000668.1:g.44281036C>G	GRCh37
NC_000006.10:g.44389014C>G	NCBI36
NG_031952.1:g.5028G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.25G>C (AARS2) MANE Select	ENSP00000244571.4:p.Ala9Pro
ENST00000244571.4:c.25G>C (AARS2)	ENSP00000244571.4:p.Ala9Pro
ENST00000505802.1:c.855+5657C>G
NM_020745.3:c.25G>C (AARS2)	NP_065796.1:p.Ala9Pro
XM_005249245.2:c.25G>C (AARS2)	XP_005249302.1:p.Ala9Pro
XM_011514764.1:c.25G>C (AARS2)	XP_011513066.1:p.Ala9Pro
XR_241907.2:n.60G>C (AARS2)
XM_005249245.3:c.25G>C (AARS2)	XP_005249302.1:p.Ala9Pro
XM_011514764.2:c.25G>C (AARS2)	XP_011513066.1:p.Ala9Pro
NM_020745.4:c.25G>C (AARS2) MANE Select	NP_065796.2:p.Ala9Pro
NM_001318876.2:c.946-128591C>G (POLR1C)	NP_001305805.1:n.946-128591C>G