Canonical Allele Identifier: CA384372574

Gene: YARS2

Linked Data

• MyVariant Identifiers: chr12:g.32906866G>T (hg19) ; chr12:g.32753932G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32753932G>T , CM000674.2:g.32753932G>T	GRCh38
NC_000012.11:g.32906866G>T , CM000674.1:g.32906866G>T	GRCh37
NC_000012.10:g.32798133G>T	NCBI36
NG_028122.1:g.7022C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324868.13:c.933C>A MANE Select	ENSP00000320658.8:p.Asp311Glu
ENST00000324868.12:c.933C>A	ENSP00000320658.8:p.Asp311Glu
ENST00000548490.1:c.855C>A	ENSP00000447710.1:p.Asp285Glu
NM_001040436.2:c.933C>A	NP_001035526.1:p.Asp311Glu
XR_242891.3:n.1020C>A
XR_242892.3:n.1020C>A
XR_429036.1:n.1020C>A
XR_931296.1:n.1020C>A
XR_931297.1:n.1020C>A
XR_931298.1:n.1020C>A
XR_931299.1:n.1020C>A
XR_001748730.2:n.1517C>A
XR_002957331.1:n.1517C>A
XR_242892.5:n.1517C>A
XR_931296.3:n.1517C>A
NM_001040436.3:c.933C>A MANE Select	NP_001035526.1:p.Asp311Glu