Canonical Allele Identifier: CA6508080
Gene: YARS2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.32754023del
GRCh37 chr12:g.32906957del
gnomAD v2:
12:32906956 CT / C
gnomAD v3:
12:32754022 CT / C
gnomAD v4:
chr12-32754022-CT-C
Joint Max Group AF 0.00006889 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00006871 (NFE)
ClinVar RCV:
RCV000479623
ClinVar Variation:
423483
dbSNP:
768344665
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32754025del , CM000674.2:g.32754025del GRCh38
NC_000012.11:g.32906959del , CM000674.1:g.32906959del GRCh37
NC_000012.10:g.32798226del NCBI36
NG_028122.1:g.6931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000324868.13:c.842del MANE Select ENSP00000320658.8:p.Lys281SerfsTer12
ENST00000324868.12:c.842del ENSP00000320658.8:p.Lys281SerfsTer12
ENST00000548490.1:c.764del ENSP00000447710.1:p.Lys255SerfsTer12
NM_001040436.2:c.842del NP_001035526.1:p.Lys281SerfsTer12
XR_242891.3:n.929del
XR_242892.3:n.929del
XR_429036.1:n.929del
XR_931296.1:n.929del
XR_931297.1:n.929del
XR_931298.1:n.929del
XR_931299.1:n.929del
XR_001748730.2:n.1426del
XR_002957331.1:n.1426del
XR_242892.5:n.1426del
XR_931296.3:n.1426del
NM_001040436.3:c.842del MANE Select NP_001035526.1:p.Lys281SerfsTer12
Search 100 bp 5'
Search 100 bp 3'