Canonical Allele Identifier: CA138396121

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs930548116
• gnomAD v4: 6-44313235-A-G
• MyVariant Identifiers: chr6:g.44280972A>G (hg19) ; chr6:g.44313235A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313235A>G , CM000668.2:g.44313235A>G	GRCh38
NC_000006.11:g.44280972A>G , CM000668.1:g.44280972A>G	GRCh37
NC_000006.10:g.44388950A>G	NCBI36
NG_031952.1:g.5092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.89T>C (AARS2) MANE Select	ENSP00000244571.4:p.Leu30Pro
ENST00000244571.4:c.89T>C (AARS2)	ENSP00000244571.4:p.Leu30Pro
ENST00000505802.1:c.855+5593A>G
NM_020745.3:c.89T>C (AARS2)	NP_065796.1:p.Leu30Pro
XM_005249245.2:c.89T>C (AARS2)	XP_005249302.1:p.Leu30Pro
XM_011514764.1:c.89T>C (AARS2)	XP_011513066.1:p.Leu30Pro
XR_241907.2:n.124T>C (AARS2)
XM_005249245.3:c.89T>C (AARS2)	XP_005249302.1:p.Leu30Pro
XM_011514764.2:c.89T>C (AARS2)	XP_011513066.1:p.Leu30Pro
NM_020745.4:c.89T>C (AARS2) MANE Select	NP_065796.2:p.Leu30Pro
NM_001318876.2:c.946-128655A>G (POLR1C)	NP_001305805.1:n.946-128655A>G