Canonical Allele Identifier: CA3833981

Linked Data

ClinVar Variation Id: 2438705
ClinVar RCV Id: RCV003139457
dbSNP Id: rs138828031
gnomAD v2: 6-44270171-G-A
gnomAD v3: 6-44302434-G-A
gnomAD v4: 6-44302434-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302434G>A , CM000668.2:g.44302434G>A GRCh38
NC_000006.11:g.44270171G>A , CM000668.1:g.44270171G>A GRCh37
NC_000006.10:g.44378149G>A NCBI36
NG_031952.1:g.15893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2444C>T (AARS2) MANE Select ENSP00000244571.4:p.Ala815Val
ENST00000244571.4:c.2444C>T (AARS2) ENSP00000244571.4:p.Ala815Val
ENST00000438774.2:c.577-4509G>A (TMEM151B) ENSP00000409337.2:n.577-4509G>A
ENST00000505802.1:c.314-4509G>A
NM_020745.3:c.2444C>T (AARS2) NP_065796.1:p.Ala815Val
XM_005249245.2:c.2153C>T (AARS2) XP_005249302.1:p.Ala718Val
XM_011514764.1:c.2444C>T (AARS2) XP_011513066.1:p.Ala815Val
XR_241907.2:n.2369C>T (AARS2)
XM_005249245.3:c.2153C>T (AARS2) XP_005249302.1:p.Ala718Val
XM_011514764.2:c.2444C>T (AARS2) XP_011513066.1:p.Ala815Val
XM_017011112.1:c.1154C>T (AARS2) XP_016866601.1:p.Ala385Val
NM_020745.4:c.2444C>T (AARS2) MANE Select NP_065796.2:p.Ala815Val
NM_001318876.2:c.946-139456G>A (POLR1C) NP_001305805.1:n.946-139456G>A