Canonical Allele Identifier: CA114728
Gene: YARS2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.32755719G>C
GRCh37 chr12:g.32908653G>C
Revel Score:
ENST00000324868 (MANE Select) 0.501
gnomAD v2:
12:32908653 G / C
gnomAD v4:
chr12-32755719-G-C
Joint Max Group AF 0.00013403 (MID)
Exomes Max Group AF 0.00014138 (MID)
ClinVar Allele:
16095
ClinVar RCV:
RCV000001111
RCV000292649
ClinVar Variation:
1056
dbSNP:
267607180
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32755719G>C , CM000674.2:g.32755719G>C GRCh38
NC_000012.11:g.32908653G>C , CM000674.1:g.32908653G>C GRCh37
NC_000012.10:g.32799920G>C NCBI36
NG_028122.1:g.5235C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000324868.13:c.156C>G MANE Select ENSP00000320658.8:p.Phe52Leu
ENST00000324868.12:c.156C>G ENSP00000320658.8:p.Phe52Leu
ENST00000548490.1:c.78C>G ENSP00000447710.1:p.Phe26Leu
NM_001040436.2:c.156C>G NP_001035526.1:p.Phe52Leu
XR_242891.3:n.243C>G
XR_242892.3:n.243C>G
XR_429036.1:n.243C>G
XR_931296.1:n.243C>G
XR_931297.1:n.243C>G
XR_931298.1:n.243C>G
XR_931299.1:n.243C>G
XR_001748730.2:n.740C>G
XR_002957331.1:n.740C>G
XR_242892.5:n.740C>G
XR_931296.3:n.740C>G
NM_001040436.3:c.156C>G MANE Select NP_001035526.1:p.Phe52Leu
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