Canonical Allele Identifier: CA514542381

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 2801410
• ClinVar RCV Id: RCV003616171
• MyVariant Identifiers: chr22:g.38509572G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38113565G>T , CM000684.2:g.38113565G>T	GRCh38
NC_000022.10:g.38509572G>T , CM000684.1:g.38509572G>T	GRCh37
NC_000022.9:g.36839518G>T	NCBI36
NG_007094.2:g.97126C>A
NG_033059.2:g.2105C>A
NG_007094.3:g.106214C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.2124C>A MANE Select	ENSP00000333142.3:p.Val708=
ENST00000436218.6:c.*1322C>A	ENSP00000401242.1:n.*1322C>A
ENST00000655142.1:c.*982C>A	ENSP00000499715.1:n.*982C>A
ENST00000660610.1:c.2124C>A	ENSP00000499555.1:p.Val708=
ENST00000663895.1:c.2124C>A	ENSP00000499712.1:p.Val708=
ENST00000664587.1:c.1986C>A	ENSP00000499394.1:p.Val662=
ENST00000665987.1:c.*1863C>A	ENSP00000499423.1:n.*1863C>A
ENST00000667521.1:c.2124C>A	ENSP00000499665.1:p.Val708=
ENST00000668499.1:c.*1983C>A	ENSP00000499626.1:n.*1983C>A
ENST00000668949.1:c.2166C>A	ENSP00000499711.1:p.Val722=
ENST00000671093.1:n.2056C>A
ENST00000673413.1:c.*1793C>A	ENSP00000500600.1:n.*1793C>A
ENST00000332509.7:c.2124C>A	ENSP00000333142.3:p.Val708=
ENST00000335539.7:c.1962C>A	ENSP00000335149.3:p.Val654=
ENST00000402064.5:c.1962C>A	ENSP00000386100.1:p.Val654=
ENST00000496409.1:n.832C>A
NM_001004426.1:c.1962C>A	NP_001004426.1:p.Val654=
NM_001199562.1:c.1962C>A	NP_001186491.1:p.Val654=
NM_003560.2:c.2124C>A	NP_003551.2:p.Val708=
XM_005261764.1:c.2124C>A	XP_005261821.1:p.Val708=
XM_005261765.1:c.2124C>A	XP_005261822.1:p.Val708=
XM_005261766.1:c.2124C>A	XP_005261823.1:p.Val708=
XM_006724332.2:c.2124C>A	XP_006724395.1:p.Val708=
XM_011530422.1:c.2019C>A	XP_011528724.1:p.Val673=
XM_011530423.1:c.1590C>A	XP_011528725.1:p.Val530=
XM_011530424.1:c.1590C>A	XP_011528726.1:p.Val530=
XM_011530425.1:c.1590C>A	XP_011528727.1:p.Val530=
XR_244390.1:n.2400C>A
XR_430411.1:n.2284C>A
XR_937938.1:n.2486C>A
NM_001004426.2:c.1962C>A	NP_001004426.1:p.Val654=
NM_001199562.2:c.1962C>A	NP_001186491.1:p.Val654=
NM_001349864.1:c.2124C>A	NP_001336793.1:p.Val708=
NM_001349865.1:c.1962C>A	NP_001336794.1:p.Val654=
NM_001349866.1:c.1962C>A	NP_001336795.1:p.Val654=
NM_001349867.1:c.1590C>A	NP_001336796.1:p.Val530=
NM_001349868.1:c.1446C>A	NP_001336797.1:p.Val482=
NM_001349869.1:c.1428C>A	NP_001336798.1:p.Val476=
NM_003560.3:c.2124C>A	NP_003551.2:p.Val708=
XM_005261764.3:c.2124C>A	XP_005261821.1:p.Val708=
XM_005261765.2:c.2124C>A	XP_005261822.1:p.Val708=
XM_006724332.4:c.2124C>A	XP_006724395.1:p.Val708=
XM_017028983.1:c.1428C>A	XP_016884472.1:p.Val476=
XM_024452280.1:c.1590C>A	XP_024308048.1:p.Val530=
XM_024452281.1:c.1590C>A	XP_024308049.1:p.Val530=
XM_024452282.1:c.1590C>A	XP_024308050.1:p.Val530=
XM_024452283.1:c.1446C>A	XP_024308051.1:p.Val482=
XM_024452284.1:c.1428C>A	XP_024308052.1:p.Val476=
XM_024452285.1:c.1428C>A	XP_024308053.1:p.Val476=
XR_001755325.2:n.2307C>A
XR_001755327.2:n.2302C>A
XR_001755328.2:n.2268C>A
XR_244390.3:n.2384C>A
XR_937938.3:n.2470C>A
NM_001199562.3:c.1962C>A	NP_001186491.1:p.Val654=
NM_001349864.2:c.2124C>A	NP_001336793.1:p.Val708=
NM_001349865.2:c.1962C>A	NP_001336794.1:p.Val654=
NM_001349866.2:c.1962C>A	NP_001336795.1:p.Val654=
NM_001349867.2:c.1590C>A	NP_001336796.1:p.Val530=
NM_001349868.2:c.1446C>A	NP_001336797.1:p.Val482=
NM_001349869.2:c.1428C>A	NP_001336798.1:p.Val476=
NM_003560.4:c.2124C>A MANE Select	NP_003551.2:p.Val708=
NM_001004426.3:c.1962C>A	NP_001004426.1:p.Val654=