Canonical Allele Identifier: CA3834762

Gene: AARS2 POLR1C

Linked Data

• ClinVar Variation Id: 1414933
• ClinVar RCV Id: RCV001930716
• dbSNP Id: rs750230257
• ExAC: 6:44281042 C / G
• gnomAD v2: 6-44281042-C-G
• gnomAD v4: 6-44313305-C-G
• MyVariant Identifiers: chr6:g.44281042C>G (hg19) ; chr6:g.44313305C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313305C>G , CM000668.2:g.44313305C>G	GRCh38
NC_000006.11:g.44281042C>G , CM000668.1:g.44281042C>G	GRCh37
NC_000006.10:g.44389020C>G	NCBI36
NG_031952.1:g.5022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.19G>C (AARS2) MANE Select	ENSP00000244571.4:p.Ala7Pro
ENST00000244571.4:c.19G>C (AARS2)	ENSP00000244571.4:p.Ala7Pro
ENST00000505802.1:c.855+5663C>G
NM_020745.3:c.19G>C (AARS2)	NP_065796.1:p.Ala7Pro
XM_005249245.2:c.19G>C (AARS2)	XP_005249302.1:p.Ala7Pro
XM_011514764.1:c.19G>C (AARS2)	XP_011513066.1:p.Ala7Pro
XR_241907.2:n.54G>C (AARS2)
XM_005249245.3:c.19G>C (AARS2)	XP_005249302.1:p.Ala7Pro
XM_011514764.2:c.19G>C (AARS2)	XP_011513066.1:p.Ala7Pro
NM_020745.4:c.19G>C (AARS2) MANE Select	NP_065796.2:p.Ala7Pro
NM_001318876.2:c.946-128585C>G (POLR1C)	NP_001305805.1:n.946-128585C>G