Canonical Allele Identifier: CA6508080

Gene: YARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32754025del , CM000674.2:g.32754025del	GRCh38
NC_000012.11:g.32906959del , CM000674.1:g.32906959del	GRCh37
NC_000012.10:g.32798226del	NCBI36
NG_028122.1:g.6931del

Transcript Alleles

HGVS	Amino-acid Change
NM_001040436.3:c.842del MANE Select	NP_001035526.1:p.Lys281SerfsTer12
ENST00000324868.13:c.842del MANE Select	ENSP00000320658.8:p.Lys281SerfsTer12
NM_001040436.2:c.842del	NP_001035526.1:p.Lys281SerfsTer12
ENST00000324868.12:c.842del	ENSP00000320658.8:p.Lys281SerfsTer12
ENST00000548490.1:c.764del	ENSP00000447710.1:p.Lys255SerfsTer12
XR_001748730.2:n.1426del
XR_002957331.1:n.1426del
XR_242891.3:n.929del
XR_242892.3:n.929del
XR_242892.5:n.1426del
XR_429036.1:n.929del
XR_931296.1:n.929del
XR_931296.3:n.1426del
XR_931297.1:n.929del
XR_931298.1:n.929del
XR_931299.1:n.929del