Canonical Allele Identifier: CA364342211

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs750271576
• gnomAD v2: 6-44280976-G-C
• gnomAD v4: 6-44313239-G-C
• MyVariant Identifiers: chr6:g.44280976G>C (hg19) ; chr6:g.44313239G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313239G>C , CM000668.2:g.44313239G>C	GRCh38
NC_000006.11:g.44280976G>C , CM000668.1:g.44280976G>C	GRCh37
NC_000006.10:g.44388954G>C	NCBI36
NG_031952.1:g.5088C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.85C>G (AARS2) MANE Select	ENSP00000244571.4:p.Pro29Ala
ENST00000244571.4:c.85C>G (AARS2)	ENSP00000244571.4:p.Pro29Ala
ENST00000505802.1:c.855+5597G>C
NM_020745.3:c.85C>G (AARS2)	NP_065796.1:p.Pro29Ala
XM_005249245.2:c.85C>G (AARS2)	XP_005249302.1:p.Pro29Ala
XM_011514764.1:c.85C>G (AARS2)	XP_011513066.1:p.Pro29Ala
XR_241907.2:n.120C>G (AARS2)
XM_005249245.3:c.85C>G (AARS2)	XP_005249302.1:p.Pro29Ala
XM_011514764.2:c.85C>G (AARS2)	XP_011513066.1:p.Pro29Ala
NM_020745.4:c.85C>G (AARS2) MANE Select	NP_065796.2:p.Pro29Ala
NM_001318876.2:c.946-128651G>C (POLR1C)	NP_001305805.1:n.946-128651G>C