Canonical Allele Identifier: CA384374479
Community Standard Title: NM_001040436.3(YARS2):c.154T>C (p.Phe52Leu)
Gene: YARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32755721A>G , CM000674.2:g.32755721A>G GRCh38
NC_000012.11:g.32908655A>G , CM000674.1:g.32908655A>G GRCh37
NC_000012.10:g.32799922A>G NCBI36
NG_028122.1:g.5233T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001040436.3:c.154T>C MANE Select NP_001035526.1:p.Phe52Leu
ENST00000324868.13:c.154T>C MANE Select ENSP00000320658.8:p.Phe52Leu
NM_001040436.2:c.154T>C NP_001035526.1:p.Phe52Leu
ENST00000324868.12:c.154T>C ENSP00000320658.8:p.Phe52Leu
ENST00000548490.1:c.76T>C ENSP00000447710.1:p.Phe26Leu
XR_001748730.2:n.738T>C
XR_002957331.1:n.738T>C
XR_242891.3:n.241T>C
XR_242892.3:n.241T>C
XR_242892.5:n.738T>C
XR_429036.1:n.241T>C
XR_931296.1:n.241T>C
XR_931296.3:n.738T>C
XR_931297.1:n.241T>C
XR_931298.1:n.241T>C
XR_931299.1:n.241T>C