Canonical Allele Identifier: CA384373236

Gene: YARS2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32755124T>G , CM000674.2:g.32755124T>G	GRCh38
NC_000012.11:g.32908058T>G , CM000674.1:g.32908058T>G	GRCh37
NC_000012.10:g.32799325T>G	NCBI36
NG_028122.1:g.5830A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324868.13:c.751A>C MANE Select	ENSP00000320658.8:p.Ile251Leu
ENST00000324868.12:c.751A>C	ENSP00000320658.8:p.Ile251Leu
ENST00000548490.1:c.673A>C	ENSP00000447710.1:p.Ile225Leu
NM_001040436.2:c.751A>C	NP_001035526.1:p.Ile251Leu
XR_242891.3:n.838A>C
XR_242892.3:n.838A>C
XR_429036.1:n.838A>C
XR_931296.1:n.838A>C
XR_931297.1:n.838A>C
XR_931298.1:n.838A>C
XR_931299.1:n.838A>C
XR_001748730.2:n.1335A>C
XR_002957331.1:n.1335A>C
XR_242892.5:n.1335A>C
XR_931296.3:n.1335A>C
NM_001040436.3:c.751A>C MANE Select	NP_001035526.1:p.Ile251Leu