Canonical Allele Identifier: CA10641974

Gene: YARS2

Linked Data

• ClinVar Variation Id: 308447
• ClinVar RCV Id: RCV000260179 ; RCV000317776 ; RCV000316547 ; RCV001114812
• dbSNP Id: rs190589666
• gnomAD v2: 12-32899996-A-G
• gnomAD v3: 12-32747062-A-G
• gnomAD v4: 12-32747062-A-G
• MyVariant Identifiers: chr12:g.32899996A>G (hg19) ; chr12:g.32747062A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32747062A>G , CM000674.2:g.32747062A>G	GRCh38
NC_000012.11:g.32899996A>G , CM000674.1:g.32899996A>G	GRCh37
NC_000012.10:g.32791263A>G	NCBI36
NG_012219.1:g.72860A>G
NG_028122.1:g.13892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324868.13:c.*142T>C MANE Select	ENSP00000320658.8:n.*142T>C
ENST00000324868.12:c.*142T>C	ENSP00000320658.8:n.*142T>C
ENST00000551673.5:n.459+14T>C
NM_001040436.2:c.*142T>C	NP_001035526.1:n.*142T>C
XR_242891.3:n.1649+14T>C
XR_242892.3:n.1649+14T>C
XR_429036.1:n.1649+14T>C
XR_931296.1:n.1649+14T>C
XR_931297.1:n.1649+14T>C
XR_931298.1:n.1649+14T>C
XR_931299.1:n.1649+14T>C
XR_001748730.2:n.2146+14T>C
XR_002957331.1:n.2146+14T>C
XR_242892.5:n.2146+14T>C
XR_931296.3:n.2146+14T>C
NM_001040436.3:c.*142T>C MANE Select	NP_001035526.1:n.*142T>C