Canonical Allele Identifier: CA3834760

Gene: AARS2 POLR1C

Linked Data

• ClinVar Variation Id: 1314020
• ClinVar RCV Id: RCV001771251 ; RCV004040279
• dbSNP Id: rs537231845
• ExAC: 6:44281036 C / A
• gnomAD v2: 6-44281036-C-A
• gnomAD v3: 6-44313299-C-A
• gnomAD v4: 6-44313299-C-A
• MyVariant Identifiers: chr6:g.44281036C>A (hg19) ; chr6:g.44313299C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313299C>A , CM000668.2:g.44313299C>A	GRCh38
NC_000006.11:g.44281036C>A , CM000668.1:g.44281036C>A	GRCh37
NC_000006.10:g.44389014C>A	NCBI36
NG_031952.1:g.5028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.25G>T (AARS2) MANE Select	ENSP00000244571.4:p.Ala9Ser
ENST00000244571.4:c.25G>T (AARS2)	ENSP00000244571.4:p.Ala9Ser
ENST00000505802.1:c.855+5657C>A
NM_020745.3:c.25G>T (AARS2)	NP_065796.1:p.Ala9Ser
XM_005249245.2:c.25G>T (AARS2)	XP_005249302.1:p.Ala9Ser
XM_011514764.1:c.25G>T (AARS2)	XP_011513066.1:p.Ala9Ser
XR_241907.2:n.60G>T (AARS2)
XM_005249245.3:c.25G>T (AARS2)	XP_005249302.1:p.Ala9Ser
XM_011514764.2:c.25G>T (AARS2)	XP_011513066.1:p.Ala9Ser
NM_020745.4:c.25G>T (AARS2) MANE Select	NP_065796.2:p.Ala9Ser
NM_001318876.2:c.946-128591C>A (POLR1C)	NP_001305805.1:n.946-128591C>A