Canonical Allele Identifier: CA364340776
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1583060070
gnomAD v4: 6-44311006-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311006A>T , CM000668.2:g.44311006A>T GRCh38
NC_000006.11:g.44278743A>T , CM000668.1:g.44278743A>T GRCh37
NC_000006.10:g.44386721A>T NCBI36
NG_031952.1:g.7321T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.737T>A (AARS2) MANE Select ENSP00000244571.4:p.Met246Lys
ENST00000244571.4:c.737T>A (AARS2) ENSP00000244571.4:p.Met246Lys
ENST00000505802.1:c.855+3364A>T
NM_020745.3:c.737T>A (AARS2) NP_065796.1:p.Met246Lys
XM_005249245.2:c.737T>A (AARS2) XP_005249302.1:p.Met246Lys
XM_011514764.1:c.737T>A (AARS2) XP_011513066.1:p.Met246Lys
XR_241907.2:n.772T>A (AARS2)
XM_005249245.3:c.737T>A (AARS2) XP_005249302.1:p.Met246Lys
XM_011514764.2:c.737T>A (AARS2) XP_011513066.1:p.Met246Lys
XM_017011112.1:c.-282T>A (AARS2) XP_016866601.1:n.-282T>A
NM_020745.4:c.737T>A (AARS2) MANE Select NP_065796.2:p.Met246Lys
NM_001318876.2:c.946-130884A>T (POLR1C) NP_001305805.1:n.946-130884A>T