Canonical Allele Identifier: CA567154590
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1471928100
gnomAD v2: 6-44279123-T-TTACC
gnomAD v3: 6-44311386-T-TTACC
gnomAD v4: 6-44311386-T-TTACC
MyVariant Identifiers: chr6:g.44279123_44279124insTACC (hg19) chr6:g.44311386_44311387insTACC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311387_44311390dup , CM000668.2:g.44311387_44311390dup GRCh38
NC_000006.11:g.44279124_44279127dup , CM000668.1:g.44279124_44279127dup GRCh37
NC_000006.10:g.44387102_44387105dup NCBI36
NG_031952.1:g.6937_6940dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.581_581+3dup (AARS2)
ENST00000244571.4:c.581_581+3dup (AARS2)
ENST00000505802.1:c.855+3745_855+3748dup
NM_020745.3:c.581_581+3dup (AARS2)
XM_005249245.2:c.581_581+3dup (AARS2)
XM_011514764.1:c.581_581+3dup (AARS2)
XR_241907.2:n.616_616+3dup (AARS2)
XM_005249245.3:c.581_581+3dup (AARS2)
XM_011514764.2:c.581_581+3dup (AARS2)
XM_017011112.1:c.-438_-438+3dup (AARS2)
NM_020745.4:c.581_581+3dup (AARS2)
NM_001318876.2:c.946-130503_946-130500dup (POLR1C) NP_001305805.1:n.946-130503_946-130500dup
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