Canonical Allele Identifier: CA3834729

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs768863031
• ExAC: 6:44280883 G / C
• MyVariant Identifiers: chr6:g.44280883G>C (hg19) ; chr6:g.44313146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313146G>C , CM000668.2:g.44313146G>C	GRCh38
NC_000006.11:g.44280883G>C , CM000668.1:g.44280883G>C	GRCh37
NC_000006.10:g.44388861G>C	NCBI36
NG_031952.1:g.5181C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.178C>G (AARS2) MANE Select	ENSP00000244571.4:p.Pro60Ala
ENST00000244571.4:c.178C>G (AARS2)	ENSP00000244571.4:p.Pro60Ala
ENST00000505802.1:c.855+5504G>C
NM_020745.3:c.178C>G (AARS2)	NP_065796.1:p.Pro60Ala
XM_005249245.2:c.178C>G (AARS2)	XP_005249302.1:p.Pro60Ala
XM_011514764.1:c.178C>G (AARS2)	XP_011513066.1:p.Pro60Ala
XR_241907.2:n.213C>G (AARS2)
XM_005249245.3:c.178C>G (AARS2)	XP_005249302.1:p.Pro60Ala
XM_011514764.2:c.178C>G (AARS2)	XP_011513066.1:p.Pro60Ala
XM_017011112.1:c.-841C>G (AARS2)	XP_016866601.1:n.-841C>G
NM_020745.4:c.178C>G (AARS2) MANE Select	NP_065796.2:p.Pro60Ala
NM_001318876.2:c.946-128744G>C (POLR1C)	NP_001305805.1:n.946-128744G>C