Canonical Allele Identifier: CA1624931769
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313181T= , CM000668.2:g.44313181T= GRCh38
NC_000006.11:g.44280918T= , CM000668.1:g.44280918T= GRCh37
NC_000006.10:g.44388896T= NCBI36
NG_031952.1:g.5146A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.143A= (AARS2) MANE Select ENSP00000244571.4:p.Asn48=
ENST00000244571.4:c.143A= (AARS2) ENSP00000244571.4:p.Asn48=
ENST00000505802.1:c.855+5539T=
NM_020745.3:c.143A= (AARS2) NP_065796.1:p.Asn48=
XM_005249245.2:c.143A= (AARS2) XP_005249302.1:p.Asn48=
XM_011514764.1:c.143A= (AARS2) XP_011513066.1:p.Asn48=
XR_241907.2:n.178A= (AARS2)
XM_005249245.3:c.143A= (AARS2) XP_005249302.1:p.Asn48=
XM_011514764.2:c.143A= (AARS2) XP_011513066.1:p.Asn48=
NM_020745.4:c.143A= (AARS2) MANE Select NP_065796.2:p.Asn48=
NM_001318876.2:c.946-128709T= (POLR1C) NP_001305805.1:n.946-128709T=