Canonical Allele Identifier: CA3834576
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 1186644
ClinVar RCV Id: RCV001545799
dbSNP Id: rs200704447
gnomAD v2: 6-44278807-G-A
gnomAD v3: 6-44311070-G-A
gnomAD v4: 6-44311070-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311070G>A , CM000668.2:g.44311070G>A GRCh38
NC_000006.11:g.44278807G>A , CM000668.1:g.44278807G>A GRCh37
NC_000006.10:g.44386785G>A NCBI36
NG_031952.1:g.7257C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.673C>T (AARS2) MANE Select ENSP00000244571.4:p.His225Tyr
ENST00000244571.4:c.673C>T (AARS2) ENSP00000244571.4:p.His225Tyr
ENST00000505802.1:c.855+3428G>A
NM_020745.3:c.673C>T (AARS2) NP_065796.1:p.His225Tyr
XM_005249245.2:c.673C>T (AARS2) XP_005249302.1:p.His225Tyr
XM_011514764.1:c.673C>T (AARS2) XP_011513066.1:p.His225Tyr
XR_241907.2:n.708C>T (AARS2)
XM_005249245.3:c.673C>T (AARS2) XP_005249302.1:p.His225Tyr
XM_011514764.2:c.673C>T (AARS2) XP_011513066.1:p.His225Tyr
XM_017011112.1:c.-346C>T (AARS2) XP_016866601.1:n.-346C>T
NM_020745.4:c.673C>T (AARS2) MANE Select NP_065796.2:p.His225Tyr
NM_001318876.2:c.946-130820G>A (POLR1C) NP_001305805.1:n.946-130820G>A