Canonical Allele Identifier: CA1401094
Gene: IARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 386616
ClinVar RCV Id: RCV000431359 RCV000958553
dbSNP Id: rs201829262
ExAC: 1:220269578 A / G
gnomAD v2: 1-220269578-A-G
gnomAD v3: 1-220096236-A-G
gnomAD v4: 1-220096236-A-G
MyVariant Identifiers: chr1:g.220269578A>G (hg19) chr1:g.220096236A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220096236A>G , CM000663.2:g.220096236A>G GRCh38
NC_000001.10:g.220269578A>G , CM000663.1:g.220269578A>G GRCh37
NC_000001.9:g.218336201A>G NCBI36
NG_041799.1:g.7124A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366922.3:c.390+10A>G MANE Select ENSP00000355889.2:n.390+10A>G
ENST00000366922.2:c.390+10A>G ENSP00000355889.2:n.390+10A>G
NM_018060.3:c.390+10A>G NP_060530.3:n.390+10A>G
NM_018060.4:c.390+10A>G MANE Select NP_060530.3:n.390+10A>G
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