Canonical Allele Identifier: CA364340772
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.44311005C>A
GRCh37 chr6:g.44278742C>A
Revel Score:
ENST00000244571 (MANE Select) 0.295
gnomAD v3:
6:44311005 C / A
gnomAD v4:
chr6-44311005-C-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311005C>A , CM000668.2:g.44311005C>A GRCh38
NC_000006.11:g.44278742C>A , CM000668.1:g.44278742C>A GRCh37
NC_000006.10:g.44386720C>A NCBI36
NG_031952.1:g.7322G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.738G>T (AARS2) MANE Select ENSP00000244571.4:p.Met246Ile
ENST00000244571.4:c.738G>T (AARS2) ENSP00000244571.4:p.Met246Ile
ENST00000505802.1:c.855+3363C>A
NM_020745.3:c.738G>T (AARS2) NP_065796.1:p.Met246Ile
XM_005249245.2:c.738G>T (AARS2) XP_005249302.1:p.Met246Ile
XM_011514764.1:c.738G>T (AARS2) XP_011513066.1:p.Met246Ile
XR_241907.2:n.773G>T (AARS2)
XM_005249245.3:c.738G>T (AARS2) XP_005249302.1:p.Met246Ile
XM_011514764.2:c.738G>T (AARS2) XP_011513066.1:p.Met246Ile
XM_017011112.1:c.-281G>T (AARS2) XP_016866601.1:n.-281G>T
NM_020745.4:c.738G>T (AARS2) MANE Select NP_065796.2:p.Met246Ile
NM_001318876.2:c.946-130885C>A (POLR1C) NP_001305805.1:n.946-130885C>A
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