Canonical Allele Identifier: CA1624928594
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44310985C= , CM000668.2:g.44310985C= GRCh38
NC_000006.11:g.44278722C= , CM000668.1:g.44278722C= GRCh37
NC_000006.10:g.44386700C= NCBI36
NG_031952.1:g.7342G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.749+9G= (AARS2) MANE Select ENSP00000244571.4:n.749+9G=
ENST00000244571.4:c.749+9G= (AARS2) ENSP00000244571.4:n.749+9G=
ENST00000505802.1:c.855+3343C=
NM_020745.3:c.749+9G= (AARS2) NP_065796.1:n.749+9G=
XM_005249245.2:c.749+9G= (AARS2) XP_005249302.1:n.749+9G=
XM_011514764.1:c.749+9G= (AARS2) XP_011513066.1:n.749+9G=
XR_241907.2:n.784+9G= (AARS2)
XM_005249245.3:c.749+9G= (AARS2) XP_005249302.1:n.749+9G=
XM_011514764.2:c.749+9G= (AARS2) XP_011513066.1:n.749+9G=
XM_017011112.1:c.-270+9G= (AARS2) XP_016866601.1:n.-270+9G=
NM_020745.4:c.749+9G= (AARS2) MANE Select NP_065796.2:n.749+9G=
NM_001318876.2:c.946-130905C= (POLR1C) NP_001305805.1:n.946-130905C=