Canonical Allele Identifier: CA250409
Gene: YARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 209209
ClinVar RCV Id: RCV000191148 RCV002517034
dbSNP Id: rs372098364
ExAC: 12:32908058 T / C
gnomAD v2: 12-32908058-T-C
gnomAD v3: 12-32755124-T-C
gnomAD v4: 12-32755124-T-C
MyVariant Identifiers: chr12:g.32908058T>C (hg19) chr12:g.32755124T>C (hg38)
PubMed: PMID:24088041 PMID:26633545
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32755124T>C , CM000674.2:g.32755124T>C GRCh38
NC_000012.11:g.32908058T>C , CM000674.1:g.32908058T>C GRCh37
NC_000012.10:g.32799325T>C NCBI36
NG_028122.1:g.5830A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000324868.13:c.751A>G MANE Select ENSP00000320658.8:p.Ile251Val
ENST00000324868.12:c.751A>G ENSP00000320658.8:p.Ile251Val
ENST00000548490.1:c.673A>G ENSP00000447710.1:p.Ile225Val
NM_001040436.2:c.751A>G NP_001035526.1:p.Ile251Val
XR_242891.3:n.838A>G
XR_242892.3:n.838A>G
XR_429036.1:n.838A>G
XR_931296.1:n.838A>G
XR_931297.1:n.838A>G
XR_931298.1:n.838A>G
XR_931299.1:n.838A>G
XR_001748730.2:n.1335A>G
XR_002957331.1:n.1335A>G
XR_242892.5:n.1335A>G
XR_931296.3:n.1335A>G
NM_001040436.3:c.751A>G MANE Select NP_001035526.1:p.Ile251Val
Search 100 bp 5'
Search 100 bp 3'