Canonical Allele Identifier: CA1401080
Gene: IARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380023
ClinVar RCV Id: RCV000676403 RCV000444119 RCV003972588
dbSNP Id: rs78836180
ExAC: 1:220269439 A / T
gnomAD v2: 1-220269439-A-T
gnomAD v3: 1-220096097-A-T
gnomAD v4: 1-220096097-A-T
MyVariant Identifiers: chr1:g.220269439A>T (hg19) chr1:g.220096097A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220096097A>T , CM000663.2:g.220096097A>T GRCh38
NC_000001.10:g.220269439A>T , CM000663.1:g.220269439A>T GRCh37
NC_000001.9:g.218336062A>T NCBI36
NG_041799.1:g.6985A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366922.3:c.268-7A>T MANE Select ENSP00000355889.2:n.268-7A>T
ENST00000366922.2:c.268-7A>T ENSP00000355889.2:n.268-7A>T
NM_018060.3:c.268-7A>T NP_060530.3:n.268-7A>T
NM_018060.4:c.268-7A>T MANE Select NP_060530.3:n.268-7A>T
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