Canonical Allele Identifier: CA6507914

Gene: YARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32747282T>C , CM000674.2:g.32747282T>C	GRCh38
NC_000012.11:g.32900216T>C , CM000674.1:g.32900216T>C	GRCh37
NC_000012.10:g.32791483T>C	NCBI36
NG_012219.1:g.73080T>C
NG_028122.1:g.13672A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001040436.3:c.1356A>G MANE Select	NP_001035526.1:p.Gln452=
ENST00000324868.13:c.1356A>G MANE Select	ENSP00000320658.8:p.Gln452=
NM_001040436.2:c.1356A>G	NP_001035526.1:p.Gln452=
ENST00000324868.12:c.1356A>G	ENSP00000320658.8:p.Gln452=
ENST00000548490.1:c.1243A>G	ENSP00000447710.1:n.1243A>G
ENST00000551673.5:n.253A>G
XR_001748730.2:n.1940A>G
XR_002957331.1:n.1940A>G
XR_242891.3:n.1443A>G
XR_242892.3:n.1443A>G
XR_242892.5:n.1940A>G
XR_429036.1:n.1443A>G
XR_931296.1:n.1443A>G
XR_931296.3:n.1940A>G
XR_931297.1:n.1443A>G
XR_931298.1:n.1443A>G
XR_931299.1:n.1443A>G