Canonical Allele Identifier: CA363938101
Gene: PLA2G7 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.46716485C>A
GRCh37 chr6:g.46684222C>A
Revel Score:
ENST00000274793 (MANE Select) 0.062
ENST00000537365 0.062
ENST00000538237 0.062
gnomAD v2:
6:46684222 C / A
gnomAD v3:
6:46716485 C / A
gnomAD v4:
chr6-46716485-C-A
Joint Max Group AF 0.00000444 (AFR)
dbSNP:
1805017
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000274793.12:c.275G>T MANE Select ENSP00000274793.7:p.Arg92Leu
ENST00000274793.11:c.275G>T ENSP00000274793.7:p.Arg92Leu
ENST00000537365.1:c.275G>T ENSP00000445666.1:p.Arg92Leu
NM_001168357.1:c.275G>T NP_001161829.1:p.Arg92Leu
NM_005084.3:c.275G>T NP_005075.3:p.Arg92Leu
XM_005249408.3:c.275G>T XP_005249465.1:p.Arg92Leu
XM_005249409.2:c.275G>T XP_005249466.1:p.Arg92Leu
XM_005249408.4:c.275G>T XP_005249465.1:p.Arg92Leu
XR_001743639.2:n.521G>T
XR_002956305.1:n.320G>T
NM_005084.4:c.275G>T MANE Select NP_005075.3:p.Arg92Leu
NM_001168357.2:c.275G>T NP_001161829.1:p.Arg92Leu
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