Canonical Allele Identifier: CA384374028

Gene: YARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32755501C>T , CM000674.2:g.32755501C>T	GRCh38
NC_000012.11:g.32908435C>T , CM000674.1:g.32908435C>T	GRCh37
NC_000012.10:g.32799702C>T	NCBI36
NG_028122.1:g.5453G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001040436.3:c.374G>A MANE Select	NP_001035526.1:p.Arg125His
ENST00000324868.13:c.374G>A MANE Select	ENSP00000320658.8:p.Arg125His
NM_001040436.2:c.374G>A	NP_001035526.1:p.Arg125His
ENST00000324868.12:c.374G>A	ENSP00000320658.8:p.Arg125His
ENST00000548490.1:c.296G>A	ENSP00000447710.1:p.Arg99His
XR_001748730.2:n.958G>A
XR_002957331.1:n.958G>A
XR_242891.3:n.461G>A
XR_242892.3:n.461G>A
XR_242892.5:n.958G>A
XR_429036.1:n.461G>A
XR_931296.1:n.461G>A
XR_931296.3:n.958G>A
XR_931297.1:n.461G>A
XR_931298.1:n.461G>A
XR_931299.1:n.461G>A