Canonical Allele Identifier: CA6508063

Gene: YARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32753931C>G , CM000674.2:g.32753931C>G	GRCh38
NC_000012.11:g.32906865C>G , CM000674.1:g.32906865C>G	GRCh37
NC_000012.10:g.32798132C>G	NCBI36
NG_028122.1:g.7023G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001040436.3:c.934G>C MANE Select	NP_001035526.1:p.Asp312His
ENST00000324868.13:c.934G>C MANE Select	ENSP00000320658.8:p.Asp312His
NM_001040436.2:c.934G>C	NP_001035526.1:p.Asp312His
ENST00000324868.12:c.934G>C	ENSP00000320658.8:p.Asp312His
ENST00000548490.1:c.856G>C	ENSP00000447710.1:p.Asp286His
XR_001748730.2:n.1518G>C
XR_002957331.1:n.1518G>C
XR_242891.3:n.1021G>C
XR_242892.3:n.1021G>C
XR_242892.5:n.1518G>C
XR_429036.1:n.1021G>C
XR_931296.1:n.1021G>C
XR_931296.3:n.1518G>C
XR_931297.1:n.1021G>C
XR_931298.1:n.1021G>C
XR_931299.1:n.1021G>C