Canonical Allele Identifier: CA171024
Gene: IARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156553
ClinVar RCV Id: RCV000144954 RCV000144718
dbSNP Id: rs587783070
gnomAD v4: 1-220143109-C-T
MyVariant Identifiers: chr1:g.220316451C>T (hg19) chr1:g.220143109C>T (hg38)
PubMed: PMID:8409271 PMID:25130867
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220143109C>T , CM000663.2:g.220143109C>T GRCh38
NC_000001.10:g.220316451C>T , CM000663.1:g.220316451C>T GRCh37
NC_000001.9:g.218383074C>T NCBI36
NG_041799.1:g.53997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366922.3:c.2726C>T MANE Select ENSP00000355889.2:p.Pro909Leu
ENST00000366922.2:c.2726C>T ENSP00000355889.2:p.Pro909Leu
ENST00000467924.1:n.421C>T
NM_018060.3:c.2726C>T NP_060530.3:p.Pro909Leu
NM_018060.4:c.2726C>T MANE Select NP_060530.3:p.Pro909Leu
Search 100 bp 5'
Search 100 bp 3'