Canonical Allele Identifier: CA450391450
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1370186369

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311101A>G , CM000668.2:g.44311101A>G GRCh38
NC_000006.11:g.44278838A>G , CM000668.1:g.44278838A>G GRCh37
NC_000006.10:g.44386816A>G NCBI36
NG_031952.1:g.7226T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.642T>C (AARS2) MANE Select ENSP00000244571.4:p.Asp214=
ENST00000244571.4:c.642T>C (AARS2) ENSP00000244571.4:p.Asp214=
ENST00000505802.1:c.855+3459A>G
NM_020745.3:c.642T>C (AARS2) NP_065796.1:p.Asp214=
XM_005249245.2:c.642T>C (AARS2) XP_005249302.1:p.Asp214=
XM_011514764.1:c.642T>C (AARS2) XP_011513066.1:p.Asp214=
XR_241907.2:n.677T>C (AARS2)
XM_005249245.3:c.642T>C (AARS2) XP_005249302.1:p.Asp214=
XM_011514764.2:c.642T>C (AARS2) XP_011513066.1:p.Asp214=
XM_017011112.1:c.-377T>C (AARS2) XP_016866601.1:n.-377T>C
NM_020745.4:c.642T>C (AARS2) MANE Select NP_065796.2:p.Asp214=
NM_001318876.2:c.946-130789A>G (POLR1C) NP_001305805.1:n.946-130789A>G