Canonical Allele Identifier: CA364341361

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1786347144
• gnomAD v3: 6-44311498-T-C
• gnomAD v4: 6-44311498-T-C
• MyVariant Identifiers: chr6:g.44279235T>C (hg19) ; chr6:g.44311498T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311498T>C , CM000668.2:g.44311498T>C	GRCh38
NC_000006.11:g.44279235T>C , CM000668.1:g.44279235T>C	GRCh37
NC_000006.10:g.44387213T>C	NCBI36
NG_031952.1:g.6829A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.473A>G (AARS2) MANE Select	ENSP00000244571.4:p.Gln158Arg
ENST00000244571.4:c.473A>G (AARS2)	ENSP00000244571.4:p.Gln158Arg
ENST00000505802.1:c.855+3856T>C
NM_020745.3:c.473A>G (AARS2)	NP_065796.1:p.Gln158Arg
XM_005249245.2:c.473A>G (AARS2)	XP_005249302.1:p.Gln158Arg
XM_011514764.1:c.473A>G (AARS2)	XP_011513066.1:p.Gln158Arg
XR_241907.2:n.508A>G (AARS2)
XM_005249245.3:c.473A>G (AARS2)	XP_005249302.1:p.Gln158Arg
XM_011514764.2:c.473A>G (AARS2)	XP_011513066.1:p.Gln158Arg
XM_017011112.1:c.-546A>G (AARS2)	XP_016866601.1:n.-546A>G
NM_020745.4:c.473A>G (AARS2) MANE Select	NP_065796.2:p.Gln158Arg
NM_001318876.2:c.946-130392T>C (POLR1C)	NP_001305805.1:n.946-130392T>C