Canonical Allele Identifier: CA364337533
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs142683237
gnomAD v4: 6-44303296-G-C
MyVariant Identifiers: chr6:g.44271033G>C (hg19) chr6:g.44303296G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44303296G>C , CM000668.2:g.44303296G>C GRCh38
NC_000006.11:g.44271033G>C , CM000668.1:g.44271033G>C GRCh37
NC_000006.10:g.44379011G>C NCBI36
NG_031952.1:g.15031C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2135C>G (AARS2) MANE Select ENSP00000244571.4:p.Ser712Cys
ENST00000244571.4:c.2135C>G (AARS2) ENSP00000244571.4:p.Ser712Cys
ENST00000438774.2:c.577-3647G>C (TMEM151B) ENSP00000409337.2:n.577-3647G>C
ENST00000505802.1:c.314-3647G>C
NM_020745.3:c.2135C>G (AARS2) NP_065796.1:p.Ser712Cys
XM_005249245.2:c.1844C>G (AARS2) XP_005249302.1:p.Ser615Cys
XM_011514764.1:c.2135C>G (AARS2) XP_011513066.1:p.Ser712Cys
XR_241907.2:n.2170C>G (AARS2)
XM_005249245.3:c.1844C>G (AARS2) XP_005249302.1:p.Ser615Cys
XM_011514764.2:c.2135C>G (AARS2) XP_011513066.1:p.Ser712Cys
XM_017011112.1:c.845C>G (AARS2) XP_016866601.1:p.Ser282Cys
NM_020745.4:c.2135C>G (AARS2) MANE Select NP_065796.2:p.Ser712Cys
NM_001318876.2:c.946-138594G>C (POLR1C) NP_001305805.1:n.946-138594G>C
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