Canonical Allele Identifier: CA138394147
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs886467263
gnomAD v4: 6-44311110-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311110C>T , CM000668.2:g.44311110C>T GRCh38
NC_000006.11:g.44278847C>T , CM000668.1:g.44278847C>T GRCh37
NC_000006.10:g.44386825C>T NCBI36
NG_031952.1:g.7217G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.633G>A (AARS2) MANE Select ENSP00000244571.4:p.Glu211=
ENST00000244571.4:c.633G>A (AARS2) ENSP00000244571.4:p.Glu211=
ENST00000505802.1:c.855+3468C>T
NM_020745.3:c.633G>A (AARS2) NP_065796.1:p.Glu211=
XM_005249245.2:c.633G>A (AARS2) XP_005249302.1:p.Glu211=
XM_011514764.1:c.633G>A (AARS2) XP_011513066.1:p.Glu211=
XR_241907.2:n.668G>A (AARS2)
XM_005249245.3:c.633G>A (AARS2) XP_005249302.1:p.Glu211=
XM_011514764.2:c.633G>A (AARS2) XP_011513066.1:p.Glu211=
XM_017011112.1:c.-386G>A (AARS2) XP_016866601.1:n.-386G>A
NM_020745.4:c.633G>A (AARS2) MANE Select NP_065796.2:p.Glu211=
NM_001318876.2:c.946-130780C>T (POLR1C) NP_001305805.1:n.946-130780C>T