Canonical Allele Identifier: CA173245

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 159754
• ClinVar RCV Id: RCV000147309 ; RCV000512748 ; RCV000821691 ; RCV001149230
• dbSNP Id: rs141777179
• ExAC: 22:38509628 C / T
• gnomAD v2: 22-38509628-C-T
• gnomAD v3: 22-38113621-C-T
• gnomAD v4: 22-38113621-C-T
• MyVariant Identifiers: chr22:g.38509628C>T (hg19) ; chr22:g.38113621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38113621C>T , CM000684.2:g.38113621C>T	GRCh38
NC_000022.10:g.38509628C>T , CM000684.1:g.38509628C>T	GRCh37
NC_000022.9:g.36839574C>T	NCBI36
NG_007094.2:g.97070G>A
NG_033059.2:g.2049G>A
NG_007094.3:g.106158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.2068G>A MANE Select	ENSP00000333142.3:p.Val690Ile
ENST00000436218.6:c.*1266G>A	ENSP00000401242.1:n.*1266G>A
ENST00000655142.1:c.*926G>A	ENSP00000499715.1:n.*926G>A
ENST00000660610.1:c.2068G>A	ENSP00000499555.1:p.Val690Ile
ENST00000663895.1:c.2068G>A	ENSP00000499712.1:p.Val690Ile
ENST00000664587.1:c.1930G>A	ENSP00000499394.1:p.Val644Ile
ENST00000665987.1:c.*1807G>A	ENSP00000499423.1:n.*1807G>A
ENST00000667521.1:c.2068G>A	ENSP00000499665.1:p.Val690Ile
ENST00000668499.1:c.*1927G>A	ENSP00000499626.1:n.*1927G>A
ENST00000668949.1:c.2110G>A	ENSP00000499711.1:p.Val704Ile
ENST00000671093.1:n.2000G>A
ENST00000673413.1:c.*1737G>A	ENSP00000500600.1:n.*1737G>A
ENST00000332509.7:c.2068G>A	ENSP00000333142.3:p.Val690Ile
ENST00000335539.7:c.1906G>A	ENSP00000335149.3:p.Val636Ile
ENST00000402064.5:c.1906G>A	ENSP00000386100.1:p.Val636Ile
ENST00000496409.1:n.776G>A
NM_001004426.1:c.1906G>A	NP_001004426.1:p.Val636Ile
NM_001199562.1:c.1906G>A	NP_001186491.1:p.Val636Ile
NM_003560.2:c.2068G>A	NP_003551.2:p.Val690Ile
XM_005261764.1:c.2068G>A	XP_005261821.1:p.Val690Ile
XM_005261765.1:c.2068G>A	XP_005261822.1:p.Val690Ile
XM_005261766.1:c.2068G>A	XP_005261823.1:p.Val690Ile
XM_006724332.2:c.2068G>A	XP_006724395.1:p.Val690Ile
XM_011530422.1:c.1963G>A	XP_011528724.1:p.Val655Ile
XM_011530423.1:c.1534G>A	XP_011528725.1:p.Val512Ile
XM_011530424.1:c.1534G>A	XP_011528726.1:p.Val512Ile
XM_011530425.1:c.1534G>A	XP_011528727.1:p.Val512Ile
XR_244390.1:n.2344G>A
XR_430411.1:n.2228G>A
XR_937938.1:n.2430G>A
NM_001004426.2:c.1906G>A	NP_001004426.1:p.Val636Ile
NM_001199562.2:c.1906G>A	NP_001186491.1:p.Val636Ile
NM_001349864.1:c.2068G>A	NP_001336793.1:p.Val690Ile
NM_001349865.1:c.1906G>A	NP_001336794.1:p.Val636Ile
NM_001349866.1:c.1906G>A	NP_001336795.1:p.Val636Ile
NM_001349867.1:c.1534G>A	NP_001336796.1:p.Val512Ile
NM_001349868.1:c.1390G>A	NP_001336797.1:p.Val464Ile
NM_001349869.1:c.1372G>A	NP_001336798.1:p.Val458Ile
NM_003560.3:c.2068G>A	NP_003551.2:p.Val690Ile
XM_005261764.3:c.2068G>A	XP_005261821.1:p.Val690Ile
XM_005261765.2:c.2068G>A	XP_005261822.1:p.Val690Ile
XM_006724332.4:c.2068G>A	XP_006724395.1:p.Val690Ile
XM_017028983.1:c.1372G>A	XP_016884472.1:p.Val458Ile
XM_024452280.1:c.1534G>A	XP_024308048.1:p.Val512Ile
XM_024452281.1:c.1534G>A	XP_024308049.1:p.Val512Ile
XM_024452282.1:c.1534G>A	XP_024308050.1:p.Val512Ile
XM_024452283.1:c.1390G>A	XP_024308051.1:p.Val464Ile
XM_024452284.1:c.1372G>A	XP_024308052.1:p.Val458Ile
XM_024452285.1:c.1372G>A	XP_024308053.1:p.Val458Ile
XR_001755325.2:n.2251G>A
XR_001755327.2:n.2246G>A
XR_001755328.2:n.2212G>A
XR_244390.3:n.2328G>A
XR_937938.3:n.2414G>A
NM_001199562.3:c.1906G>A	NP_001186491.1:p.Val636Ile
NM_001349864.2:c.2068G>A	NP_001336793.1:p.Val690Ile
NM_001349865.2:c.1906G>A	NP_001336794.1:p.Val636Ile
NM_001349866.2:c.1906G>A	NP_001336795.1:p.Val636Ile
NM_001349867.2:c.1534G>A	NP_001336796.1:p.Val512Ile
NM_001349868.2:c.1390G>A	NP_001336797.1:p.Val464Ile
NM_001349869.2:c.1372G>A	NP_001336798.1:p.Val458Ile
NM_003560.4:c.2068G>A MANE Select	NP_003551.2:p.Val690Ile
NM_001004426.3:c.1906G>A	NP_001004426.1:p.Val636Ile