Canonical Allele Identifier: CA1624926383
Community Standard Title: NM_020745.4(AARS2):c.1774C= (p.Arg592=)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44304512G= , CM000668.2:g.44304512G= GRCh38
NC_000006.11:g.44272249G= , CM000668.1:g.44272249G= GRCh37
NC_000006.10:g.44380227G= NCBI36
NG_031952.1:g.13815C=

Transcript Alleles

HGVS Amino-acid Change
NM_020745.4:c.1774C= (AARS2) MANE Select NP_065796.2:p.Arg592=
ENST00000244571.5:c.1774C= (AARS2) MANE Select ENSP00000244571.4:p.Arg592=
NM_001318876.2:c.946-137378G= (POLR1C) NP_001305805.1:n.946-137378G=
NM_020745.3:c.1774C= (AARS2) NP_065796.1:p.Arg592=
ENST00000244571.4:c.1774C= (AARS2) ENSP00000244571.4:p.Arg592=
ENST00000438774.2:c.577-2431G= (TMEM151B) ENSP00000409337.2:n.577-2431G=
ENST00000505802.1:c.314-2431G=
XM_005249245.2:c.1483C= (AARS2) XP_005249302.1:p.Arg495=
XM_005249245.3:c.1483C= (AARS2) XP_005249302.1:p.Arg495=
XM_011514764.1:c.1774C= (AARS2) XP_011513066.1:p.Arg592=
XM_011514764.2:c.1774C= (AARS2) XP_011513066.1:p.Arg592=
XM_017011112.1:c.484C= (AARS2) XP_016866601.1:p.Arg162=
XR_241907.2:n.1809C= (AARS2)