Canonical Allele Identifier: CA235219494

Gene: YARS2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32754025dup , CM000674.2:g.32754025dup	GRCh38
NC_000012.11:g.32906959dup , CM000674.1:g.32906959dup	GRCh37
NC_000012.10:g.32798226dup	NCBI36
NG_028122.1:g.6931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324868.13:c.842dup MANE Select	ENSP00000320658.8:p.Leu282AlafsTer15
ENST00000324868.12:c.842dup	ENSP00000320658.8:p.Leu282AlafsTer15
ENST00000548490.1:c.764dup	ENSP00000447710.1:p.Leu256AlafsTer15
NM_001040436.2:c.842dup	NP_001035526.1:p.Leu282AlafsTer15
XR_242891.3:n.929dup
XR_242892.3:n.929dup
XR_429036.1:n.929dup
XR_931296.1:n.929dup
XR_931297.1:n.929dup
XR_931298.1:n.929dup
XR_931299.1:n.929dup
XR_001748730.2:n.1426dup
XR_002957331.1:n.1426dup
XR_242892.5:n.1426dup
XR_931296.3:n.1426dup
NM_001040436.3:c.842dup MANE Select	NP_001035526.1:p.Leu282AlafsTer15