Canonical Allele Identifier: CA320581
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 213971
ClinVar RCV Id: RCV000196157
dbSNP Id: rs775065697

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44303159A>G , CM000668.2:g.44303159A>G GRCh38
NC_000006.11:g.44270896A>G , CM000668.1:g.44270896A>G GRCh37
NC_000006.10:g.44378874A>G NCBI36
NG_031952.1:g.15168T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2162T>C (AARS2) MANE Select ENSP00000244571.4:p.Val721Ala
ENST00000244571.4:c.2162T>C ENSP00000244571.4:p.Val721Ala
ENST00000438774.2:n.577-3784A>G ENSP00000409337.2:p.=
ENST00000505802.1:n.314-3784A>G
NM_020745.3:c.2162T>C (AARS2) NP_065796.1:p.Val721Ala
XM_005249245.2:c.1871T>C (AARS2) XP_005249302.1:p.Val624Ala
XM_011514764.1:c.2162T>C (AARS2) XP_011513066.1:p.Val721Ala
XR_241907.2:n.2180+127T>C (AARS2)
XM_005249245.3:c.1871T>C (AARS2) XP_005249302.1:p.Val624Ala
XM_011514764.2:c.2162T>C (AARS2) XP_011513066.1:p.Val721Ala
XM_017011112.1:c.872T>C (AARS2) XP_016866601.1:p.Val291Ala
NM_020745.4:c.2162T>C (AARS2) MANE Select NP_065796.2:p.Val721Ala
NM_001318876.2:c.946-138731A>G (POLR1C) NP_001305805.1:p.=