Canonical Allele Identifier: CA3833975

Linked Data

ClinVar Variation Id: 1204750
dbSNP Id: rs146765163
gnomAD v2: 6-44270144-A-G
gnomAD v3: 6-44302407-A-G
gnomAD v4: 6-44302407-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302407A>G , CM000668.2:g.44302407A>G GRCh38
NC_000006.11:g.44270144A>G , CM000668.1:g.44270144A>G GRCh37
NC_000006.10:g.44378122A>G NCBI36
NG_031952.1:g.15920T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2471T>C (AARS2) MANE Select ENSP00000244571.4:p.Ile824Thr
ENST00000244571.4:c.2471T>C (AARS2) ENSP00000244571.4:p.Ile824Thr
ENST00000438774.2:c.577-4536A>G (TMEM151B) ENSP00000409337.2:n.577-4536A>G
ENST00000505802.1:c.314-4536A>G
NM_020745.3:c.2471T>C (AARS2) NP_065796.1:p.Ile824Thr
XM_005249245.2:c.2180T>C (AARS2) XP_005249302.1:p.Ile727Thr
XM_011514764.1:c.2471T>C (AARS2) XP_011513066.1:p.Ile824Thr
XR_241907.2:n.2396T>C (AARS2)
XM_005249245.3:c.2180T>C (AARS2) XP_005249302.1:p.Ile727Thr
XM_011514764.2:c.2471T>C (AARS2) XP_011513066.1:p.Ile824Thr
XM_017011112.1:c.1181T>C (AARS2) XP_016866601.1:p.Ile394Thr
NM_020745.4:c.2471T>C (AARS2) MANE Select NP_065796.2:p.Ile824Thr
NM_001318876.2:c.946-139483A>G (POLR1C) NP_001305805.1:n.946-139483A>G