Canonical Allele Identifier: CA364341128

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1181554646
• gnomAD v2: 6-44279130-A-C
• gnomAD v4: 6-44311393-A-C
• MyVariant Identifiers: chr6:g.44279130A>C (hg19) ; chr6:g.44311393A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311393A>C , CM000668.2:g.44311393A>C	GRCh38
NC_000006.11:g.44279130A>C , CM000668.1:g.44279130A>C	GRCh37
NC_000006.10:g.44387108A>C	NCBI36
NG_031952.1:g.6934T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.578T>G (AARS2) MANE Select	ENSP00000244571.4:p.Leu193Ter
ENST00000244571.4:c.578T>G (AARS2)	ENSP00000244571.4:p.Leu193Ter
ENST00000505802.1:c.855+3751A>C
NM_020745.3:c.578T>G (AARS2)	NP_065796.1:p.Leu193Ter
XM_005249245.2:c.578T>G (AARS2)	XP_005249302.1:p.Leu193Ter
XM_011514764.1:c.578T>G (AARS2)	XP_011513066.1:p.Leu193Ter
XR_241907.2:n.613T>G (AARS2)
XM_005249245.3:c.578T>G (AARS2)	XP_005249302.1:p.Leu193Ter
XM_011514764.2:c.578T>G (AARS2)	XP_011513066.1:p.Leu193Ter
XM_017011112.1:c.-441T>G (AARS2)	XP_016866601.1:n.-441T>G
NM_020745.4:c.578T>G (AARS2) MANE Select	NP_065796.2:p.Leu193Ter
NM_001318876.2:c.946-130497A>C (POLR1C)	NP_001305805.1:n.946-130497A>C