Canonical Allele Identifier: CA384374517

Gene: YARS2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001040436.3:c.137G>T MANE Select	NP_001035526.1:p.Gly46Val
ENST00000324868.13:c.137G>T MANE Select	ENSP00000320658.8:p.Gly46Val
NM_001040436.2:c.137G>T	NP_001035526.1:p.Gly46Val
ENST00000324868.12:c.137G>T	ENSP00000320658.8:p.Gly46Val
ENST00000548490.1:c.59G>T	ENSP00000447710.1:p.Gly20Val
XR_001748730.2:n.721G>T
XR_002957331.1:n.721G>T
XR_242891.3:n.224G>T
XR_242892.3:n.224G>T
XR_242892.5:n.721G>T
XR_429036.1:n.224G>T
XR_931296.1:n.224G>T
XR_931296.3:n.721G>T
XR_931297.1:n.224G>T
XR_931298.1:n.224G>T
XR_931299.1:n.224G>T