Canonical Allele Identifier: CA6508078
Community Standard Title: NM_001040436.3(YARS2):c.870T>C (p.Val290=)
Gene: YARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32753995A>G , CM000674.2:g.32753995A>G GRCh38
NC_000012.11:g.32906929A>G , CM000674.1:g.32906929A>G GRCh37
NC_000012.10:g.32798196A>G NCBI36
NG_028122.1:g.6959T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001040436.3:c.870T>C MANE Select NP_001035526.1:p.Val290=
ENST00000324868.13:c.870T>C MANE Select ENSP00000320658.8:p.Val290=
NM_001040436.2:c.870T>C NP_001035526.1:p.Val290=
ENST00000324868.12:c.870T>C ENSP00000320658.8:p.Val290=
ENST00000548490.1:c.792T>C ENSP00000447710.1:p.Val264=
XR_001748730.2:n.1454T>C
XR_002957331.1:n.1454T>C
XR_242891.3:n.957T>C
XR_242892.3:n.957T>C
XR_242892.5:n.1454T>C
XR_429036.1:n.957T>C
XR_931296.1:n.957T>C
XR_931296.3:n.1454T>C
XR_931297.1:n.957T>C
XR_931298.1:n.957T>C
XR_931299.1:n.957T>C