Canonical Allele Identifier: CA3192155848
Gene: YARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32755259G= , CM000674.2:g.32755259G= GRCh38
NC_000012.11:g.32908193G= , CM000674.1:g.32908193G= GRCh37
NC_000012.10:g.32799460G= NCBI36
NG_028122.1:g.5695C=

Transcript Alleles

HGVS Amino-acid Change
NM_001040436.3:c.616C= MANE Select NP_001035526.1:p.Leu206=
ENST00000324868.13:c.616C= MANE Select ENSP00000320658.8:p.Leu206=
NM_001040436.2:c.616C= NP_001035526.1:p.Leu206=
ENST00000324868.12:c.616C= ENSP00000320658.8:p.Leu206=
ENST00000548490.1:c.538C= ENSP00000447710.1:p.Leu180=
XR_001748730.2:n.1200C=
XR_002957331.1:n.1200C=
XR_242891.3:n.703C=
XR_242892.3:n.703C=
XR_242892.5:n.1200C=
XR_429036.1:n.703C=
XR_931296.1:n.703C=
XR_931296.3:n.1200C=
XR_931297.1:n.703C=
XR_931298.1:n.703C=
XR_931299.1:n.703C=