Canonical Allele Identifier: CA2697552759

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 2711293
• ClinVar RCV Id: RCV003508201

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38116121dup , CM000684.2:g.38116121dup	GRCh38
NC_000022.10:g.38512128dup , CM000684.1:g.38512128dup	GRCh37
NC_000022.9:g.36842074dup	NCBI36
NG_007094.2:g.94570dup
NG_007094.3:g.103658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1833dup MANE Select	ENSP00000333142.3:p.Arg612SerfsTer7
ENST00000427114.6:c.1137dup	ENSP00000407743.2:p.Arg380SerfsTer7
ENST00000436218.6:c.*1031dup	ENSP00000401242.1:n.*1031dup
ENST00000655142.1:c.*691dup	ENSP00000499715.1:n.*691dup
ENST00000660610.1:c.1833dup	ENSP00000499555.1:p.Arg612SerfsTer7
ENST00000663895.1:c.1833dup	ENSP00000499712.1:p.Arg612SerfsTer7
ENST00000664587.1:c.1695dup	ENSP00000499394.1:p.Arg566SerfsTer7
ENST00000665987.1:c.*1572dup	ENSP00000499423.1:n.*1572dup
ENST00000667521.1:c.1833dup	ENSP00000499665.1:p.Arg612SerfsTer7
ENST00000668499.1:c.*1555dup	ENSP00000499626.1:n.*1555dup
ENST00000668949.1:c.1671dup	ENSP00000499711.1:p.Arg558SerfsTer7
ENST00000671093.1:n.1765dup
ENST00000673413.1:c.*1502dup	ENSP00000500600.1:n.*1502dup
ENST00000332509.7:c.1833dup	ENSP00000333142.3:p.Arg612SerfsTer7
ENST00000335539.7:c.1671dup	ENSP00000335149.3:p.Arg558SerfsTer7
ENST00000402064.5:c.1671dup	ENSP00000386100.1:p.Arg558SerfsTer7
ENST00000448094.5:c.*438dup	ENSP00000407106.1:n.*438dup
ENST00000454670.1:c.569dup
ENST00000496409.1:n.373dup
NM_001004426.1:c.1671dup	NP_001004426.1:p.Arg558SerfsTer7
NM_001199562.1:c.1671dup	NP_001186491.1:p.Arg558SerfsTer7
NM_003560.2:c.1833dup	NP_003551.2:p.Arg612SerfsTer7
XM_005261764.1:c.1833dup	XP_005261821.1:p.Arg612SerfsTer7
XM_005261765.1:c.1833dup	XP_005261822.1:p.Arg612SerfsTer7
XM_005261766.1:c.1833dup	XP_005261823.1:p.Arg612SerfsTer7
XM_006724332.2:c.1833dup	XP_006724395.1:p.Arg612SerfsTer7
XM_011530422.1:c.1728dup	XP_011528724.1:p.Arg577SerfsTer7
XM_011530423.1:c.1299dup	XP_011528725.1:p.Arg434SerfsTer7
XM_011530424.1:c.1299dup	XP_011528726.1:p.Arg434SerfsTer7
XM_011530425.1:c.1299dup	XP_011528727.1:p.Arg434SerfsTer7
XR_244390.1:n.1941dup
XR_430411.1:n.1993dup
XR_937937.1:n.2032dup
XR_937938.1:n.2027dup
XR_937939.1:n.2084dup
NM_001004426.2:c.1671dup	NP_001004426.1:p.Arg558SerfsTer7
NM_001199562.2:c.1671dup	NP_001186491.1:p.Arg558SerfsTer7
NM_001349864.1:c.1833dup	NP_001336793.1:p.Arg612SerfsTer7
NM_001349865.1:c.1671dup	NP_001336794.1:p.Arg558SerfsTer7
NM_001349866.1:c.1671dup	NP_001336795.1:p.Arg558SerfsTer7
NM_001349867.1:c.1299dup	NP_001336796.1:p.Arg434SerfsTer7
NM_001349868.1:c.1155dup	NP_001336797.1:p.Arg386SerfsTer7
NM_001349869.1:c.1137dup	NP_001336798.1:p.Arg380SerfsTer7
NM_003560.3:c.1833dup	NP_003551.2:p.Arg612SerfsTer7
XM_005261764.3:c.1833dup	XP_005261821.1:p.Arg612SerfsTer7
XM_005261765.2:c.1833dup	XP_005261822.1:p.Arg612SerfsTer7
XM_006724332.4:c.1833dup	XP_006724395.1:p.Arg612SerfsTer7
XM_017028983.1:c.1137dup	XP_016884472.1:p.Arg380SerfsTer7
XM_024452280.1:c.1299dup	XP_024308048.1:p.Arg434SerfsTer7
XM_024452281.1:c.1299dup	XP_024308049.1:p.Arg434SerfsTer7
XM_024452282.1:c.1299dup	XP_024308050.1:p.Arg434SerfsTer7
XM_024452283.1:c.1155dup	XP_024308051.1:p.Arg386SerfsTer7
XM_024452284.1:c.1137dup	XP_024308052.1:p.Arg380SerfsTer7
XM_024452285.1:c.1137dup	XP_024308053.1:p.Arg380SerfsTer7
XR_001755325.2:n.2016dup
XR_001755327.2:n.2011dup
XR_001755328.2:n.1977dup
XR_244390.3:n.1925dup
XR_937938.3:n.2011dup
XR_937939.3:n.2068dup
NM_001199562.3:c.1671dup	NP_001186491.1:p.Arg558SerfsTer7
NM_001349864.2:c.1833dup	NP_001336793.1:p.Arg612SerfsTer7
NM_001349865.2:c.1671dup	NP_001336794.1:p.Arg558SerfsTer7
NM_001349866.2:c.1671dup	NP_001336795.1:p.Arg558SerfsTer7
NM_001349867.2:c.1299dup	NP_001336796.1:p.Arg434SerfsTer7
NM_001349868.2:c.1155dup	NP_001336797.1:p.Arg386SerfsTer7
NM_001349869.2:c.1137dup	NP_001336798.1:p.Arg380SerfsTer7
NM_003560.4:c.1833dup MANE Select	NP_003551.2:p.Arg612SerfsTer7
NM_001004426.3:c.1671dup	NP_001004426.1:p.Arg558SerfsTer7