Canonical Allele Identifier: CA364342142

Gene: AARS2 POLR1C

Linked Data

• ClinVar Variation Id: 1363840
• ClinVar RCV Id: RCV001937203
• dbSNP Id: rs778971317
• gnomAD v4: 6-44313205-G-A
• MyVariant Identifiers: chr6:g.44280942G>A (hg19) ; chr6:g.44313205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313205G>A , CM000668.2:g.44313205G>A	GRCh38
NC_000006.11:g.44280942G>A , CM000668.1:g.44280942G>A	GRCh37
NC_000006.10:g.44388920G>A	NCBI36
NG_031952.1:g.5122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.119C>T (AARS2) MANE Select	ENSP00000244571.4:p.Ser40Leu
ENST00000244571.4:c.119C>T (AARS2)	ENSP00000244571.4:p.Ser40Leu
ENST00000505802.1:c.855+5563G>A
NM_020745.3:c.119C>T (AARS2)	NP_065796.1:p.Ser40Leu
XM_005249245.2:c.119C>T (AARS2)	XP_005249302.1:p.Ser40Leu
XM_011514764.1:c.119C>T (AARS2)	XP_011513066.1:p.Ser40Leu
XR_241907.2:n.154C>T (AARS2)
XM_005249245.3:c.119C>T (AARS2)	XP_005249302.1:p.Ser40Leu
XM_011514764.2:c.119C>T (AARS2)	XP_011513066.1:p.Ser40Leu
NM_020745.4:c.119C>T (AARS2) MANE Select	NP_065796.2:p.Ser40Leu
NM_001318876.2:c.946-128685G>A (POLR1C)	NP_001305805.1:n.946-128685G>A