Canonical Allele Identifier: CA2026286772
Community Standard Title: NM_001040436.3(YARS2):c.137G= (p.Gly46=)
Gene: YARS2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001040436.3:c.137G= MANE Select NP_001035526.1:p.Gly46=
ENST00000324868.13:c.137G= MANE Select ENSP00000320658.8:p.Gly46=
NM_001040436.2:c.137G= NP_001035526.1:p.Gly46=
ENST00000324868.12:c.137G= ENSP00000320658.8:p.Gly46=
ENST00000548490.1:c.59G= ENSP00000447710.1:p.Gly20=
XR_001748730.2:n.721G=
XR_002957331.1:n.721G=
XR_242891.3:n.224G=
XR_242892.3:n.224G=
XR_242892.5:n.721G=
XR_429036.1:n.224G=
XR_931296.1:n.224G=
XR_931296.3:n.721G=
XR_931297.1:n.224G=
XR_931298.1:n.224G=
XR_931299.1:n.224G=