Canonical Allele Identifier: CA2026331569
Community Standard Title: NM_001040436.3(YARS2):c.1396A= (p.Lys466=)
Gene: YARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32747242T= , CM000674.2:g.32747242T= GRCh38
NC_000012.11:g.32900176T= , CM000674.1:g.32900176T= GRCh37
NC_000012.10:g.32791443T= NCBI36
NG_012219.1:g.73040T=
NG_028122.1:g.13712A=

Transcript Alleles

HGVS Amino-acid Change
NM_001040436.3:c.1396A= MANE Select NP_001035526.1:p.Lys466=
ENST00000324868.13:c.1396A= MANE Select ENSP00000320658.8:p.Lys466=
NM_001040436.2:c.1396A= NP_001035526.1:p.Lys466=
ENST00000324868.12:c.1396A= ENSP00000320658.8:p.Lys466=
ENST00000548490.1:c.1283A= ENSP00000447710.1:n.1283A=
ENST00000551673.5:n.293A=
XR_001748730.2:n.1980A=
XR_002957331.1:n.1980A=
XR_242891.3:n.1483A=
XR_242892.3:n.1483A=
XR_242892.5:n.1980A=
XR_429036.1:n.1483A=
XR_931296.1:n.1483A=
XR_931296.3:n.1980A=
XR_931297.1:n.1483A=
XR_931298.1:n.1483A=
XR_931299.1:n.1483A=