Canonical Allele Identifier: CA3834590
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs756151860
gnomAD v2: 6-44278884-C-T
gnomAD v3: 6-44311147-C-T
gnomAD v4: 6-44311147-C-T
COSMIC: COSM451565

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311147C>T , CM000668.2:g.44311147C>T GRCh38
NC_000006.11:g.44278884C>T , CM000668.1:g.44278884C>T GRCh37
NC_000006.10:g.44386862C>T NCBI36
NG_031952.1:g.7180G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.596G>A (AARS2) MANE Select ENSP00000244571.4:p.Arg199His
ENST00000244571.4:c.596G>A (AARS2) ENSP00000244571.4:p.Arg199His
ENST00000505802.1:c.855+3505C>T
NM_020745.3:c.596G>A (AARS2) NP_065796.1:p.Arg199His
XM_005249245.2:c.596G>A (AARS2) XP_005249302.1:p.Arg199His
XM_011514764.1:c.596G>A (AARS2) XP_011513066.1:p.Arg199His
XR_241907.2:n.631G>A (AARS2)
XM_005249245.3:c.596G>A (AARS2) XP_005249302.1:p.Arg199His
XM_011514764.2:c.596G>A (AARS2) XP_011513066.1:p.Arg199His
XM_017011112.1:c.-423G>A (AARS2) XP_016866601.1:n.-423G>A
NM_020745.4:c.596G>A (AARS2) MANE Select NP_065796.2:p.Arg199His
NM_001318876.2:c.946-130743C>T (POLR1C) NP_001305805.1:n.946-130743C>T