Canonical Allele Identifier: CA259782
Gene: PLA2G6 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38115657C>T , CM000684.2:g.38115657C>T GRCh38
NC_000022.10:g.38511664C>T , CM000684.1:g.38511664C>T GRCh37
NC_000022.9:g.36841610C>T NCBI36
NG_007094.2:g.95034G>A
NG_033059.2:g.13G>A
NG_007094.3:g.104122G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332509.8:c.1904G>A MANE Select ENSP00000333142.3:p.Arg635Gln
ENST00000427114.6:c.1208G>A ENSP00000407743.2:p.Arg403Gln
ENST00000436218.6:c.*1102G>A ENSP00000401242.1:n.*1102G>A
ENST00000655142.1:c.*762G>A ENSP00000499715.1:n.*762G>A
ENST00000660610.1:c.1904G>A ENSP00000499555.1:p.Arg635Gln
ENST00000663895.1:c.1904G>A ENSP00000499712.1:p.Arg635Gln
ENST00000664587.1:c.1766G>A ENSP00000499394.1:p.Arg589Gln
ENST00000665987.1:c.*1643G>A ENSP00000499423.1:n.*1643G>A
ENST00000667521.1:c.1904G>A ENSP00000499665.1:p.Arg635Gln
ENST00000668499.1:c.*1626G>A ENSP00000499626.1:n.*1626G>A
ENST00000668949.1:c.1742G>A ENSP00000499711.1:p.Arg581Gln
ENST00000671093.1:n.1836G>A
ENST00000673413.1:c.*1573G>A ENSP00000500600.1:n.*1573G>A
ENST00000332509.7:c.1904G>A ENSP00000333142.3:p.Arg635Gln
ENST00000335539.7:c.1742G>A ENSP00000335149.3:p.Arg581Gln
ENST00000402064.5:c.1742G>A ENSP00000386100.1:p.Arg581Gln
ENST00000454670.1:c.640G>A
ENST00000496409.1:n.612G>A
NM_001004426.1:c.1742G>A NP_001004426.1:p.Arg581Gln
NM_001199562.1:c.1742G>A NP_001186491.1:p.Arg581Gln
NM_003560.2:c.1904G>A NP_003551.2:p.Arg635Gln
XM_005261764.1:c.1904G>A XP_005261821.1:p.Arg635Gln
XM_005261765.1:c.1904G>A XP_005261822.1:p.Arg635Gln
XM_005261766.1:c.1904G>A XP_005261823.1:p.Arg635Gln
XM_006724332.2:c.1904G>A XP_006724395.1:p.Arg635Gln
XM_011530422.1:c.1799G>A XP_011528724.1:p.Arg600Gln
XM_011530423.1:c.1370G>A XP_011528725.1:p.Arg457Gln
XM_011530424.1:c.1370G>A XP_011528726.1:p.Arg457Gln
XM_011530425.1:c.1370G>A XP_011528727.1:p.Arg457Gln
XR_244390.1:n.2180G>A
XR_430411.1:n.2064G>A
XR_937937.1:n.2103G>A
XR_937938.1:n.2266G>A
XR_937939.1:n.2155G>A
NM_001004426.2:c.1742G>A NP_001004426.1:p.Arg581Gln
NM_001199562.2:c.1742G>A NP_001186491.1:p.Arg581Gln
NM_001349864.1:c.1904G>A NP_001336793.1:p.Arg635Gln
NM_001349865.1:c.1742G>A NP_001336794.1:p.Arg581Gln
NM_001349866.1:c.1742G>A NP_001336795.1:p.Arg581Gln
NM_001349867.1:c.1370G>A NP_001336796.1:p.Arg457Gln
NM_001349868.1:c.1226G>A NP_001336797.1:p.Arg409Gln
NM_001349869.1:c.1208G>A NP_001336798.1:p.Arg403Gln
NM_003560.3:c.1904G>A NP_003551.2:p.Arg635Gln
XM_005261764.3:c.1904G>A XP_005261821.1:p.Arg635Gln
XM_005261765.2:c.1904G>A XP_005261822.1:p.Arg635Gln
XM_006724332.4:c.1904G>A XP_006724395.1:p.Arg635Gln
XM_017028983.1:c.1208G>A XP_016884472.1:p.Arg403Gln
XM_024452280.1:c.1370G>A XP_024308048.1:p.Arg457Gln
XM_024452281.1:c.1370G>A XP_024308049.1:p.Arg457Gln
XM_024452282.1:c.1370G>A XP_024308050.1:p.Arg457Gln
XM_024452283.1:c.1226G>A XP_024308051.1:p.Arg409Gln
XM_024452284.1:c.1208G>A XP_024308052.1:p.Arg403Gln
XM_024452285.1:c.1208G>A XP_024308053.1:p.Arg403Gln
XR_001755325.2:n.2087G>A
XR_001755327.2:n.2082G>A
XR_001755328.2:n.2048G>A
XR_244390.3:n.2164G>A
XR_937938.3:n.2250G>A
XR_937939.3:n.2139G>A
NM_001199562.3:c.1742G>A NP_001186491.1:p.Arg581Gln
NM_001349864.2:c.1904G>A NP_001336793.1:p.Arg635Gln
NM_001349865.2:c.1742G>A NP_001336794.1:p.Arg581Gln
NM_001349866.2:c.1742G>A NP_001336795.1:p.Arg581Gln
NM_001349867.2:c.1370G>A NP_001336796.1:p.Arg457Gln
NM_001349868.2:c.1226G>A NP_001336797.1:p.Arg409Gln
NM_001349869.2:c.1208G>A NP_001336798.1:p.Arg403Gln
NM_003560.4:c.1904G>A MANE Select NP_003551.2:p.Arg635Gln
NM_001004426.3:c.1742G>A NP_001004426.1:p.Arg581Gln