Canonical Allele Identifier: CA2026334859
Community Standard Title: NM_001040436.3(YARS2):c.1078C= (p.Arg360=)
Gene: YARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32750744G= , CM000674.2:g.32750744G= GRCh38
NC_000012.11:g.32903678G= , CM000674.1:g.32903678G= GRCh37
NC_000012.10:g.32794945G= NCBI36
NG_028122.1:g.10210C=

Transcript Alleles

HGVS Amino-acid Change
NM_001040436.3:c.1078C= MANE Select NP_001035526.1:p.Arg360=
ENST00000324868.13:c.1078C= MANE Select ENSP00000320658.8:p.Arg360=
NM_001040436.2:c.1078C= NP_001035526.1:p.Arg360=
ENST00000324868.12:c.1078C= ENSP00000320658.8:p.Arg360=
ENST00000548490.1:c.965C= ENSP00000447710.1:n.965C=
XR_001748730.2:n.1662C=
XR_002957331.1:n.1662C=
XR_242891.3:n.1165C=
XR_242892.3:n.1165C=
XR_242892.5:n.1662C=
XR_429036.1:n.1165C=
XR_931296.1:n.1165C=
XR_931296.3:n.1662C=
XR_931297.1:n.1165C=
XR_931298.1:n.1165C=
XR_931299.1:n.1165C=