Canonical Allele Identifier: CA119149
Gene: PLA2G7 HGNC NCBI
COSMIC:
COSM4415263 (not active)
MyVariant.info:
GRCh38 chr6:g.46711566A>G
GRCh37 chr6:g.46679303A>G
Revel Score:
ENST00000274793 (MANE Select) 0.016
ENST00000537365 0.016
ENST00000538237 0.016
ENST00000541026 0.016
gnomAD v2:
6:46679303 A / G
gnomAD v3:
6:46711566 A / G
gnomAD v4:
chr6-46711566-A-G
Joint Max Group AF 0.2203232 (AFR)
Genomes Max Group AF 0.21669291 (AFR)
Exomes Max Group AF 0.22221612 (AFR)
ClinVar RCV:
RCV000008377
RCV003974806
ClinVar Variation:
7915
dbSNP:
1805018
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.46711566A>G , CM000668.2:g.46711566A>G GRCh38
NC_000006.11:g.46679303A>G , CM000668.1:g.46679303A>G GRCh37
NC_000006.10:g.46787262A>G NCBI36
NG_016204.1:g.29128T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274793.12:c.593T>C MANE Select ENSP00000274793.7:p.Ile198Thr
ENST00000274793.11:c.593T>C ENSP00000274793.7:p.Ile198Thr
ENST00000537365.1:c.593T>C ENSP00000445666.1:p.Ile198Thr
NM_001168357.1:c.593T>C NP_001161829.1:p.Ile198Thr
NM_005084.3:c.593T>C NP_005075.3:p.Ile198Thr
XM_005249408.3:c.593T>C XP_005249465.1:p.Ile198Thr
XM_005249409.2:c.593T>C XP_005249466.1:p.Ile198Thr
XM_005249408.4:c.593T>C XP_005249465.1:p.Ile198Thr
XR_001743639.2:n.839T>C
XR_002956305.1:n.638T>C
NM_005084.4:c.593T>C MANE Select NP_005075.3:p.Ile198Thr
NM_001168357.2:c.593T>C NP_001161829.1:p.Ile198Thr
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