Canonical Allele Identifier: CA1401267
Gene: IARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 252717
ClinVar RCV Id: RCV000239219 RCV001857839 RCV002518525
dbSNP Id: rs146236436
ExAC: 1:220276789 G / A
gnomAD v2: 1-220276789-G-A
gnomAD v3: 1-220103447-G-A
gnomAD v4: 1-220103447-G-A
MyVariant Identifiers: chr1:g.220276789G>A (hg19) chr1:g.220103447G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220103447G>A , CM000663.2:g.220103447G>A GRCh38
NC_000001.10:g.220276789G>A , CM000663.1:g.220276789G>A GRCh37
NC_000001.9:g.218343412G>A NCBI36
NG_041799.1:g.14335G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366922.3:c.951G>A MANE Select ENSP00000355889.2:p.Lys317=
ENST00000366922.2:c.951G>A ENSP00000355889.2:p.Lys317=
NM_018060.3:c.951G>A NP_060530.3:p.Lys317=
NM_018060.4:c.951G>A MANE Select NP_060530.3:p.Lys317=
Search 100 bp 5'
Search 100 bp 3'