Canonical Allele Identifier: CA364342305

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1583062929
• MyVariant Identifiers: chr6:g.44281028C>G (hg19) ; chr6:g.44313291C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313291C>G , CM000668.2:g.44313291C>G	GRCh38
NC_000006.11:g.44281028C>G , CM000668.1:g.44281028C>G	GRCh37
NC_000006.10:g.44389006C>G	NCBI36
NG_031952.1:g.5036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.33G>C (AARS2) MANE Select	ENSP00000244571.4:p.Arg11Ser
ENST00000244571.4:c.33G>C (AARS2)	ENSP00000244571.4:p.Arg11Ser
ENST00000505802.1:c.855+5649C>G
NM_020745.3:c.33G>C (AARS2)	NP_065796.1:p.Arg11Ser
XM_005249245.2:c.33G>C (AARS2)	XP_005249302.1:p.Arg11Ser
XM_011514764.1:c.33G>C (AARS2)	XP_011513066.1:p.Arg11Ser
XR_241907.2:n.68G>C (AARS2)
XM_005249245.3:c.33G>C (AARS2)	XP_005249302.1:p.Arg11Ser
XM_011514764.2:c.33G>C (AARS2)	XP_011513066.1:p.Arg11Ser
NM_020745.4:c.33G>C (AARS2) MANE Select	NP_065796.2:p.Arg11Ser
NM_001318876.2:c.946-128599C>G (POLR1C)	NP_001305805.1:n.946-128599C>G