Canonical Allele Identifier: CA3834752

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs773635947
• ExAC: 6:44281013 A / C
• gnomAD v4: 6-44313276-A-C
• MyVariant Identifiers: chr6:g.44281013A>C (hg19) ; chr6:g.44313276A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313276A>C , CM000668.2:g.44313276A>C	GRCh38
NC_000006.11:g.44281013A>C , CM000668.1:g.44281013A>C	GRCh37
NC_000006.10:g.44388991A>C	NCBI36
NG_031952.1:g.5051T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.48T>G (AARS2) MANE Select	ENSP00000244571.4:p.Ile16Met
ENST00000244571.4:c.48T>G (AARS2)	ENSP00000244571.4:p.Ile16Met
ENST00000505802.1:c.855+5634A>C
NM_020745.3:c.48T>G (AARS2)	NP_065796.1:p.Ile16Met
XM_005249245.2:c.48T>G (AARS2)	XP_005249302.1:p.Ile16Met
XM_011514764.1:c.48T>G (AARS2)	XP_011513066.1:p.Ile16Met
XR_241907.2:n.83T>G (AARS2)
XM_005249245.3:c.48T>G (AARS2)	XP_005249302.1:p.Ile16Met
XM_011514764.2:c.48T>G (AARS2)	XP_011513066.1:p.Ile16Met
NM_020745.4:c.48T>G (AARS2) MANE Select	NP_065796.2:p.Ile16Met
NM_001318876.2:c.946-128614A>C (POLR1C)	NP_001305805.1:n.946-128614A>C