Canonical Allele Identifier: CA1624928896
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311156G= , CM000668.2:g.44311156G= GRCh38
NC_000006.11:g.44278893G= , CM000668.1:g.44278893G= GRCh37
NC_000006.10:g.44386871G= NCBI36
NG_031952.1:g.7171C=

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.587C= (AARS2) MANE Select ENSP00000244571.4:p.Pro196=
ENST00000244571.4:c.587C= (AARS2) ENSP00000244571.4:p.Pro196=
ENST00000505802.1:c.855+3514G=
NM_020745.3:c.587C= (AARS2) NP_065796.1:p.Pro196=
XM_005249245.2:c.587C= (AARS2) XP_005249302.1:p.Pro196=
XM_011514764.1:c.587C= (AARS2) XP_011513066.1:p.Pro196=
XR_241907.2:n.622C= (AARS2)
XM_005249245.3:c.587C= (AARS2) XP_005249302.1:p.Pro196=
XM_011514764.2:c.587C= (AARS2) XP_011513066.1:p.Pro196=
XM_017011112.1:c.-432C= (AARS2) XP_016866601.1:n.-432C=
NM_020745.4:c.587C= (AARS2) MANE Select NP_065796.2:p.Pro196=
NM_001318876.2:c.946-130734G= (POLR1C) NP_001305805.1:n.946-130734G=