Canonical Allele Identifier: CA6508151
Gene: YARS2 HGNC NCBI
COSMIC:
COSM3753192 (not active)
MyVariant.info:
GRCh38 chr12:g.32755303C>A
GRCh37 chr12:g.32908237C>A
Revel Score:
ENST00000324868 (MANE Select) 0.192
gnomAD v2:
12:32908237 C / A
gnomAD v3:
12:32755303 C / A
gnomAD v4:
chr12-32755303-C-A
Joint Max Group AF 0.17132333 (MID)
Genomes Max Group AF 0.1657211 (AFR)
Exomes Max Group AF 0.17172925 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32755303C>A , CM000674.2:g.32755303C>A GRCh38
NC_000012.11:g.32908237C>A , CM000674.1:g.32908237C>A GRCh37
NC_000012.10:g.32799504C>A NCBI36
NG_028122.1:g.5651G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324868.13:c.572G>T MANE Select ENSP00000320658.8:p.Gly191Val
ENST00000324868.12:c.572G>T ENSP00000320658.8:p.Gly191Val
ENST00000548490.1:c.494G>T ENSP00000447710.1:p.Gly165Val
NM_001040436.2:c.572G>T NP_001035526.1:p.Gly191Val
XR_242891.3:n.659G>T
XR_242892.3:n.659G>T
XR_429036.1:n.659G>T
XR_931296.1:n.659G>T
XR_931297.1:n.659G>T
XR_931298.1:n.659G>T
XR_931299.1:n.659G>T
XR_001748730.2:n.1156G>T
XR_002957331.1:n.1156G>T
XR_242892.5:n.1156G>T
XR_931296.3:n.1156G>T
NM_001040436.3:c.572G>T MANE Select NP_001035526.1:p.Gly191Val
Search 100 bp 5'
Search 100 bp 3'