Canonical Allele Identifier: CA364342298

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs774773031
• gnomAD v4: 6-44313287-G-C
• MyVariant Identifiers: chr6:g.44281024G>C (hg19) ; chr6:g.44313287G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313287G>C , CM000668.2:g.44313287G>C	GRCh38
NC_000006.11:g.44281024G>C , CM000668.1:g.44281024G>C	GRCh37
NC_000006.10:g.44389002G>C	NCBI36
NG_031952.1:g.5040C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.37C>G (AARS2) MANE Select	ENSP00000244571.4:p.Arg13Gly
ENST00000244571.4:c.37C>G (AARS2)	ENSP00000244571.4:p.Arg13Gly
ENST00000505802.1:c.855+5645G>C
NM_020745.3:c.37C>G (AARS2)	NP_065796.1:p.Arg13Gly
XM_005249245.2:c.37C>G (AARS2)	XP_005249302.1:p.Arg13Gly
XM_011514764.1:c.37C>G (AARS2)	XP_011513066.1:p.Arg13Gly
XR_241907.2:n.72C>G (AARS2)
XM_005249245.3:c.37C>G (AARS2)	XP_005249302.1:p.Arg13Gly
XM_011514764.2:c.37C>G (AARS2)	XP_011513066.1:p.Arg13Gly
NM_020745.4:c.37C>G (AARS2) MANE Select	NP_065796.2:p.Arg13Gly
NM_001318876.2:c.946-128603G>C (POLR1C)	NP_001305805.1:n.946-128603G>C