Canonical Allele Identifier: CA215977
Gene: PLA2G7 HGNC NCBI
COSMIC:
COSM451580 (not active)
MyVariant.info:
GRCh38 chr6:g.46716485C>T
GRCh37 chr6:g.46684222C>T
Revel Score:
ENST00000274793 (MANE Select) 0.057
ENST00000537365 0.057
ENST00000538237 0.057
gnomAD v2:
6:46684222 C / T
gnomAD v3:
6:46716485 C / T
gnomAD v4:
chr6-46716485-C-T
Joint Max Group AF 0.49957622 (SAS)
Genomes Max Group AF 0.49664249 (SAS)
Exomes Max Group AF 0.49891021 (SAS)
ClinVar RCV:
RCV000049573
RCV003974937
ClinVar Variation:
56163
dbSNP:
1805017
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.46716485C>T , CM000668.2:g.46716485C>T GRCh38
NC_000006.11:g.46684222C>T , CM000668.1:g.46684222C>T GRCh37
NC_000006.10:g.46792181C>T NCBI36
NG_016204.1:g.24209G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274793.12:c.275G>A MANE Select ENSP00000274793.7:p.Arg92His
ENST00000274793.11:c.275G>A ENSP00000274793.7:p.Arg92His
ENST00000537365.1:c.275G>A ENSP00000445666.1:p.Arg92His
NM_001168357.1:c.275G>A NP_001161829.1:p.Arg92His
NM_005084.3:c.275G>A NP_005075.3:p.Arg92His
XM_005249408.3:c.275G>A XP_005249465.1:p.Arg92His
XM_005249409.2:c.275G>A XP_005249466.1:p.Arg92His
XM_005249408.4:c.275G>A XP_005249465.1:p.Arg92His
XR_001743639.2:n.521G>A
XR_002956305.1:n.320G>A
NM_005084.4:c.275G>A MANE Select NP_005075.3:p.Arg92His
NM_001168357.2:c.275G>A NP_001161829.1:p.Arg92His
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