Canonical Allele Identifier: CA138396302
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs377066824
gnomAD v2: 6-44281053-G-A
gnomAD v3: 6-44313316-G-A
gnomAD v4: 6-44313316-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313316G>A , CM000668.2:g.44313316G>A GRCh38
NC_000006.11:g.44281053G>A , CM000668.1:g.44281053G>A GRCh37
NC_000006.10:g.44389031G>A NCBI36
NG_031952.1:g.5011C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.8C>T (AARS2) MANE Select ENSP00000244571.4:p.Ala3Val
ENST00000244571.4:c.8C>T (AARS2) ENSP00000244571.4:p.Ala3Val
ENST00000505802.1:c.855+5674G>A
NM_020745.3:c.8C>T (AARS2) NP_065796.1:p.Ala3Val
XM_005249245.2:c.8C>T (AARS2) XP_005249302.1:p.Ala3Val
XM_011514764.1:c.8C>T (AARS2) XP_011513066.1:p.Ala3Val
XR_241907.2:n.43C>T (AARS2)
XM_005249245.3:c.8C>T (AARS2) XP_005249302.1:p.Ala3Val
XM_011514764.2:c.8C>T (AARS2) XP_011513066.1:p.Ala3Val
NM_020745.4:c.8C>T (AARS2) MANE Select NP_065796.2:p.Ala3Val
NM_001318876.2:c.946-128574G>A (POLR1C) NP_001305805.1:n.946-128574G>A