Canonical Allele Identifier: CA150747
Gene: YARS2 HGNC NCBI
ClinVar RCV:
RCV000088671
RCV000255137
ClinVar Variation:
102433
dbSNP:
587777213
gnomAD v2:
12:32908672 C / T
gnomAD v4:
chr12-32755738-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
MyVariant.info:
GRCh38 chr12:g.32755738C>T
GRCh37 chr12:g.32908672C>T
Revel Score:
ENST00000324868 (MANE Select) 0.684
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32755738C>T , CM000674.2:g.32755738C>T GRCh38
NC_000012.11:g.32908672C>T , CM000674.1:g.32908672C>T GRCh37
NC_000012.10:g.32799939C>T NCBI36
NG_028122.1:g.5216G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324868.13:c.137G>A MANE Select ENSP00000320658.8:p.Gly46Asp
ENST00000324868.12:c.137G>A ENSP00000320658.8:p.Gly46Asp
ENST00000548490.1:c.59G>A ENSP00000447710.1:p.Gly20Asp
NM_001040436.2:c.137G>A NP_001035526.1:p.Gly46Asp
XR_242891.3:n.224G>A
XR_242892.3:n.224G>A
XR_429036.1:n.224G>A
XR_931296.1:n.224G>A
XR_931297.1:n.224G>A
XR_931298.1:n.224G>A
XR_931299.1:n.224G>A
XR_001748730.2:n.721G>A
XR_002957331.1:n.721G>A
XR_242892.5:n.721G>A
XR_931296.3:n.721G>A
NM_001040436.3:c.137G>A MANE Select NP_001035526.1:p.Gly46Asp
Search 100 bp 5'
Search 100 bp 3'