Canonical Allele Identifier: CA322336
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs765842125

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44312251dup , CM000668.2:g.44312251dup GRCh38
NC_000006.11:g.44279988dup , CM000668.1:g.44279988dup GRCh37
NC_000006.10:g.44387966dup NCBI36
NG_031952.1:g.6078dup

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.258dup (AARS2) MANE Select ENSP00000244571.4:p.Leu87SerfsTer30
ENST00000244571.4:c.258dup (AARS2) ENSP00000244571.4:p.Leu87SerfsTer30
ENST00000505802.1:c.855+4609dup
NM_020745.3:c.258dup (AARS2) NP_065796.1:p.Leu87SerfsTer30
XM_005249245.2:c.258dup (AARS2) XP_005249302.1:p.Leu87SerfsTer30
XM_011514764.1:c.258dup (AARS2) XP_011513066.1:p.Leu87SerfsTer30
XR_241907.2:n.293dup (AARS2)
XM_005249245.3:c.258dup (AARS2) XP_005249302.1:p.Leu87SerfsTer30
XM_011514764.2:c.258dup (AARS2) XP_011513066.1:p.Leu87SerfsTer30
XM_017011112.1:c.-761dup (AARS2) XP_016866601.1:n.-761dup
NM_020745.4:c.258dup (AARS2) MANE Select NP_065796.2:p.Leu87SerfsTer30
NM_001318876.2:c.946-129639dup (POLR1C) NP_001305805.1:n.946-129639dup