Canonical Allele Identifier: CA170061
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 143044

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311097dup , CM000668.2:g.44311097dup GRCh38
NC_000006.11:g.44278834dup , CM000668.1:g.44278834dup GRCh37
NC_000006.10:g.44386812dup NCBI36
NG_031952.1:g.7231dup

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.647dup (AARS2) MANE Select ENSP00000244571.4:p.Cys218LeufsTer6
ENST00000244571.4:c.647dup ENSP00000244571.4:p.Cys218LeufsTer6
ENST00000505802.1:n.855+3455dup
NM_020745.3:c.647dup (AARS2) NP_065796.1:p.Cys218LeufsTer6
XM_005249245.2:c.647dup (AARS2) XP_005249302.1:p.Cys218LeufsTer6
XM_011514764.1:c.647dup (AARS2) XP_011513066.1:p.Cys218LeufsTer6
XR_241907.2:n.682dup (AARS2)
XM_005249245.3:c.647dup (AARS2) XP_005249302.1:p.Cys218LeufsTer6
XM_011514764.2:c.647dup (AARS2) XP_011513066.1:p.Cys218LeufsTer6
XM_017011112.1:c.-372dup (AARS2) XP_016866601.1:p.=
NM_020745.4:c.647dup (AARS2) MANE Select NP_065796.2:p.Cys218LeufsTer6
NM_001318876.2:c.946-130793dup (POLR1C) NP_001305805.1:p.=