Canonical Allele Identifier: CA233274
Gene: IARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156552
dbSNP Id: rs143722284
COSMIC: COSM281840

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220137990G>A , CM000663.2:g.220137990G>A GRCh38
NC_000001.10:g.220311332G>A , CM000663.1:g.220311332G>A GRCh37
NC_000001.9:g.218377955G>A NCBI36
NG_041799.1:g.48878G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366922.3:c.2122G>A MANE Select ENSP00000355889.2:p.Glu708Lys
ENST00000366922.2:c.2122G>A ENSP00000355889.2:p.Glu708Lys
ENST00000488777.1:n.349G>A
NM_018060.3:c.2122G>A NP_060530.3:p.Glu708Lys
NM_018060.4:c.2122G>A MANE Select NP_060530.3:p.Glu708Lys