Canonical Allele Identifier: CA657873
Gene: PLA2G2E HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.19922710T>C
GRCh37 chr1:g.20249203T>C
Revel Score:
ENST00000375116 (MANE Select) 0.135
gnomAD v2:
1:20249203 T / C
gnomAD v3:
1:19922710 T / C
gnomAD v4:
chr1-19922710-T-C
Joint Max Group AF 0.0005499 (NFE)
Genomes Max Group AF 0.00056003 (NFE)
Exomes Max Group AF 0.00054122 (NFE)
ClinVar Allele:
2349591
ClinVar RCV:
RCV004204015
ClinVar Variation:
2363824
dbSNP:
140234785
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19922710T>C , CM000663.2:g.19922710T>C GRCh38
NC_000001.10:g.20249203T>C , CM000663.1:g.20249203T>C GRCh37
NC_000001.9:g.20121790T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375116.3:c.86A>G MANE Select ENSP00000364257.3:p.Glu29Gly
NM_014589.2:c.86A>G NP_055404.1:p.Glu29Gly
NM_014589.3:c.86A>G MANE Select NP_055404.1:p.Glu29Gly
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