Canonical Allele Identifier: CA514551604

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 2885557
• ClinVar RCV Id: RCV003617134
• dbSNP Id: rs1268806702
• gnomAD v2: 22-38528871-C-T
• gnomAD v4: 22-38132864-C-T
• MyVariant Identifiers: chr22:g.38528871C>T (hg19) ; chr22:g.38132864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38132864C>T , CM000684.2:g.38132864C>T	GRCh38
NC_000022.10:g.38528871C>T , CM000684.1:g.38528871C>T	GRCh37
NC_000022.9:g.36858817C>T	NCBI36
NG_007094.2:g.77827G>A
NG_007094.3:g.86915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1044G>A MANE Select	ENSP00000333142.3:p.Glu348=
ENST00000427114.6:c.510G>A	ENSP00000407743.2:p.Glu170=
ENST00000436218.6:c.*404G>A	ENSP00000401242.1:n.*404G>A
ENST00000655142.1:c.856G>A	ENSP00000499715.1:p.Ala286Thr
ENST00000660610.1:c.1044G>A	ENSP00000499555.1:p.Glu348=
ENST00000663895.1:c.1044G>A	ENSP00000499712.1:p.Glu348=
ENST00000664587.1:c.1044G>A	ENSP00000499394.1:p.Glu348=
ENST00000665987.1:c.*945G>A	ENSP00000499423.1:n.*945G>A
ENST00000667521.1:c.1044G>A	ENSP00000499665.1:p.Glu348=
ENST00000668208.1:n.1174G>A
ENST00000668499.1:c.*875G>A	ENSP00000499626.1:n.*875G>A
ENST00000668949.1:c.1044G>A	ENSP00000499711.1:p.Glu348=
ENST00000671093.1:n.1138G>A
ENST00000673413.1:c.*875G>A	ENSP00000500600.1:n.*875G>A
ENST00000332509.7:c.1044G>A	ENSP00000333142.3:p.Glu348=
ENST00000335539.7:c.1044G>A	ENSP00000335149.3:p.Glu348=
ENST00000402064.5:c.1044G>A	ENSP00000386100.1:p.Glu348=
ENST00000427114.5:c.458G>A
ENST00000427453.5:c.299G>A
ENST00000448094.5:c.225G>A	ENSP00000407106.1:p.Glu75=
ENST00000452542.5:c.536G>A
ENST00000452794.5:c.14G>A
ENST00000471636.5:n.413-6337G>A
NM_001004426.1:c.1044G>A	NP_001004426.1:p.Glu348=
NM_001199562.1:c.1044G>A	NP_001186491.1:p.Glu348=
NM_003560.2:c.1044G>A	NP_003551.2:p.Glu348=
XM_005261764.1:c.1044G>A	XP_005261821.1:p.Glu348=
XM_005261765.1:c.1044G>A	XP_005261822.1:p.Glu348=
XM_005261766.1:c.1044G>A	XP_005261823.1:p.Glu348=
XM_005261771.3:c.1044G>A	XP_005261828.1:p.Glu348=
XM_006724332.2:c.1044G>A	XP_006724395.1:p.Glu348=
XM_011530422.1:c.939G>A	XP_011528724.1:p.Glu313=
XM_011530423.1:c.510G>A	XP_011528725.1:p.Glu170=
XM_011530424.1:c.510G>A	XP_011528726.1:p.Glu170=
XM_011530425.1:c.510G>A	XP_011528727.1:p.Glu170=
XM_011530426.1:c.1044G>A	XP_011528728.1:p.Glu348=
XM_011530427.1:c.939G>A	XP_011528729.1:p.Glu313=
XM_011530428.1:c.1044G>A	XP_011528730.1:p.Glu348=
XR_244390.1:n.1152G>A
XR_244392.1:n.1152G>A
XR_430411.1:n.1152G>A
XR_430412.1:n.1152G>A
XR_937937.1:n.1152G>A
XR_937938.1:n.1152G>A
XR_937939.1:n.1152G>A
XR_937940.1:n.1152G>A
NM_001004426.2:c.1044G>A	NP_001004426.1:p.Glu348=
NM_001199562.2:c.1044G>A	NP_001186491.1:p.Glu348=
NM_001349864.1:c.1044G>A	NP_001336793.1:p.Glu348=
NM_001349865.1:c.1044G>A	NP_001336794.1:p.Glu348=
NM_001349866.1:c.1044G>A	NP_001336795.1:p.Glu348=
NM_001349867.1:c.510G>A	NP_001336796.1:p.Glu170=
NM_001349868.1:c.366G>A	NP_001336797.1:p.Glu122=
NM_001349869.1:c.510G>A	NP_001336798.1:p.Glu170=
NM_003560.3:c.1044G>A	NP_003551.2:p.Glu348=
XM_005261764.3:c.1044G>A	XP_005261821.1:p.Glu348=
XM_005261765.2:c.1044G>A	XP_005261822.1:p.Glu348=
XM_006724332.4:c.1044G>A	XP_006724395.1:p.Glu348=
XM_011530426.3:c.1044G>A	XP_011528728.1:p.Glu348=
XM_017028983.1:c.510G>A	XP_016884472.1:p.Glu170=
XM_017028986.2:c.1044G>A	XP_016884475.1:p.Glu348=
XM_017028987.2:c.1044G>A	XP_016884476.1:p.Glu348=
XM_017028988.2:c.1044G>A	XP_016884477.1:p.Glu348=
XM_024452280.1:c.510G>A	XP_024308048.1:p.Glu170=
XM_024452281.1:c.510G>A	XP_024308049.1:p.Glu170=
XM_024452282.1:c.510G>A	XP_024308050.1:p.Glu170=
XM_024452283.1:c.366G>A	XP_024308051.1:p.Glu122=
XM_024452284.1:c.510G>A	XP_024308052.1:p.Glu170=
XM_024452285.1:c.510G>A	XP_024308053.1:p.Glu170=
XR_001755325.2:n.1136G>A
XR_001755327.2:n.1136G>A
XR_001755328.2:n.1136G>A
XR_244390.3:n.1136G>A
XR_937938.3:n.1136G>A
XR_937939.3:n.1136G>A
XR_937940.3:n.1136G>A
NM_001199562.3:c.1044G>A	NP_001186491.1:p.Glu348=
NM_001349864.2:c.1044G>A	NP_001336793.1:p.Glu348=
NM_001349865.2:c.1044G>A	NP_001336794.1:p.Glu348=
NM_001349866.2:c.1044G>A	NP_001336795.1:p.Glu348=
NM_001349867.2:c.510G>A	NP_001336796.1:p.Glu170=
NM_001349868.2:c.366G>A	NP_001336797.1:p.Glu122=
NM_001349869.2:c.510G>A	NP_001336798.1:p.Glu170=
NM_003560.4:c.1044G>A MANE Select	NP_003551.2:p.Glu348=
NM_001004426.3:c.1044G>A	NP_001004426.1:p.Glu348=