Canonical Allele Identifier: CA3833924
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 280559
ClinVar RCV Id: RCV000384046
dbSNP Id: rs768351915

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302059C>A , CM000668.2:g.44302059C>A GRCh38
NC_000006.11:g.44269796C>A , CM000668.1:g.44269796C>A GRCh37
NC_000006.10:g.44377774C>A NCBI36
NG_031952.1:g.16268G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2598+1G>T (AARS2) MANE Select ENSP00000244571.4:p.=
ENST00000244571.4:c.2598+1G>T ENSP00000244571.4:p.=
ENST00000438774.2:n.577-4884C>A ENSP00000409337.2:p.=
ENST00000505802.1:n.314-4884C>A
NM_020745.3:c.2598+1G>T (AARS2) NP_065796.1:p.=
XM_005249245.2:c.2307+1G>T (AARS2) XP_005249302.1:p.=
XM_011514764.1:c.2598+1G>T (AARS2) XP_011513066.1:p.=
XR_241907.2:n.2523+1G>T (AARS2)
XM_005249245.3:c.2307+1G>T (AARS2) XP_005249302.1:p.=
XM_011514764.2:c.2598+1G>T (AARS2) XP_011513066.1:p.=
XM_017011112.1:c.1308+1G>T (AARS2) XP_016866601.1:p.=
NM_020745.4:c.2598+1G>T (AARS2) MANE Select NP_065796.2:p.=
NM_001318876.2:c.946-139831C>A (POLR1C) NP_001305805.1:p.=