Canonical Allele Identifier: CA324007
Gene: YARS2 HGNC NCBI
ClinVar RCV:
RCV000199469
ClinVar Variation:
215420
dbSNP:
863224270
gnomAD v4:
chr12-32747242-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
MyVariant.info:
GRCh38 chr12:g.32747242T>C
GRCh37 chr12:g.32900176T>C
Revel Score:
ENST00000324868 (MANE Select) 0.891
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32747242T>C , CM000674.2:g.32747242T>C GRCh38
NC_000012.11:g.32900176T>C , CM000674.1:g.32900176T>C GRCh37
NC_000012.10:g.32791443T>C NCBI36
NG_012219.1:g.73040T>C
NG_028122.1:g.13712A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000324868.13:c.1396A>G MANE Select ENSP00000320658.8:p.Lys466Glu
ENST00000324868.12:c.1396A>G ENSP00000320658.8:p.Lys466Glu
ENST00000548490.1:c.1283A>G ENSP00000447710.1:n.1283A>G
ENST00000551673.5:n.293A>G
NM_001040436.2:c.1396A>G NP_001035526.1:p.Lys466Glu
XR_242891.3:n.1483A>G
XR_242892.3:n.1483A>G
XR_429036.1:n.1483A>G
XR_931296.1:n.1483A>G
XR_931297.1:n.1483A>G
XR_931298.1:n.1483A>G
XR_931299.1:n.1483A>G
XR_001748730.2:n.1980A>G
XR_002957331.1:n.1980A>G
XR_242892.5:n.1980A>G
XR_931296.3:n.1980A>G
NM_001040436.3:c.1396A>G MANE Select NP_001035526.1:p.Lys466Glu
Search 100 bp 5'
Search 100 bp 3'