Canonical Allele Identifier: CA3834587

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs201389962
• ExAC: 6:44278866 G / C
• gnomAD v2: 6-44278866-G-C
• gnomAD v3: 6-44311129-G-C
• gnomAD v4: 6-44311129-G-C
• MyVariant Identifiers: chr6:g.44278866G>C (hg19) ; chr6:g.44311129G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311129G>C , CM000668.2:g.44311129G>C	GRCh38
NC_000006.11:g.44278866G>C , CM000668.1:g.44278866G>C	GRCh37
NC_000006.10:g.44386844G>C	NCBI36
NG_031952.1:g.7198C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.614C>G (AARS2) MANE Select	ENSP00000244571.4:p.Pro205Arg
ENST00000244571.4:c.614C>G (AARS2)	ENSP00000244571.4:p.Pro205Arg
ENST00000505802.1:c.855+3487G>C
NM_020745.3:c.614C>G (AARS2)	NP_065796.1:p.Pro205Arg
XM_005249245.2:c.614C>G (AARS2)	XP_005249302.1:p.Pro205Arg
XM_011514764.1:c.614C>G (AARS2)	XP_011513066.1:p.Pro205Arg
XR_241907.2:n.649C>G (AARS2)
XM_005249245.3:c.614C>G (AARS2)	XP_005249302.1:p.Pro205Arg
XM_011514764.2:c.614C>G (AARS2)	XP_011513066.1:p.Pro205Arg
XM_017011112.1:c.-405C>G (AARS2)	XP_016866601.1:n.-405C>G
NM_020745.4:c.614C>G (AARS2) MANE Select	NP_065796.2:p.Pro205Arg
NM_001318876.2:c.946-130761G>C (POLR1C)	NP_001305805.1:n.946-130761G>C