Canonical Allele Identifier: CA10626921
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 357023
ClinVar RCV Id: RCV000270794
dbSNP Id: rs79454687
gnomAD v2: 6-44266565-A-G
gnomAD v3: 6-44298828-A-G
gnomAD v4: 6-44298828-A-G
MyVariant Identifiers: chr6:g.44266565A>G (hg19) chr6:g.44298828A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44298828A>G , CM000668.2:g.44298828A>G GRCh38
NC_000006.11:g.44266565A>G , CM000668.1:g.44266565A>G GRCh37
NC_000006.10:g.44374543A>G NCBI36
NG_031952.1:g.19499T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.*1719T>C (AARS2) MANE Select ENSP00000244571.4:n.*1719T>C
ENST00000438774.2:c.577-8115A>G (TMEM151B) ENSP00000409337.2:n.577-8115A>G
ENST00000505802.1:c.314-8115A>G
NM_020745.3:c.*1719T>C (AARS2) NP_065796.1:n.*1719T>C
XM_011514764.1:c.2794-516T>C (AARS2) XP_011513066.1:n.2794-516T>C
XM_005249245.3:c.*1719T>C (AARS2) XP_005249302.1:n.*1719T>C
XM_011514764.2:c.2794-516T>C (AARS2) XP_011513066.1:n.2794-516T>C
XM_017011112.1:c.*1719T>C (AARS2) XP_016866601.1:n.*1719T>C
NM_020745.4:c.*1719T>C (AARS2) MANE Select NP_065796.2:n.*1719T>C
NM_001318876.2:c.946-143062A>G (POLR1C) NP_001305805.1:n.946-143062A>G
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