Canonical Allele Identifier: CA15464018
Gene: PLA2G7 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.46714342A>C
GRCh37 chr6:g.46682079A>C
gnomAD v2:
6:46682079 A / C
gnomAD v3:
6:46714342 A / C
gnomAD v4:
chr6-46714342-A-C
Joint Max Group AF 0.88257447 (AFR)
Genomes Max Group AF 0.88153235 (AFR)
Exomes Max Group AF 0.87868654 (EAS)
dbSNP:
1362931
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.46714342A>C , CM000668.2:g.46714342A>C GRCh38
NC_000006.11:g.46682079A>C , CM000668.1:g.46682079A>C GRCh37
NC_000006.10:g.46790038A>C NCBI36
NG_016204.1:g.26352T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274793.12:c.470+118T>G MANE Select ENSP00000274793.7:n.470+118T>G
ENST00000274793.11:c.470+118T>G ENSP00000274793.7:n.470+118T>G
ENST00000537365.1:c.470+118T>G ENSP00000445666.1:n.470+118T>G
NM_001168357.1:c.470+118T>G NP_001161829.1:n.470+118T>G
NM_005084.3:c.470+118T>G NP_005075.3:n.470+118T>G
XM_005249408.3:c.470+118T>G XP_005249465.1:n.470+118T>G
XM_005249409.2:c.470+118T>G XP_005249466.1:n.470+118T>G
XM_005249408.4:c.470+118T>G XP_005249465.1:n.470+118T>G
XR_001743639.2:n.716+118T>G
XR_002956305.1:n.515+118T>G
NM_005084.4:c.470+118T>G MANE Select NP_005075.3:n.470+118T>G
NM_001168357.2:c.470+118T>G NP_001161829.1:n.470+118T>G
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