Canonical Allele Identifier: CA10230702

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 1346987
• ClinVar RCV Id: RCV002032930 ; RCV002265035 ; RCV002482409 ; RCV002545323
• dbSNP Id: rs139579057
• ExAC: 22:38512112 C / T
• gnomAD v2: 22-38512112-C-T
• gnomAD v3: 22-38116105-C-T
• gnomAD v4: 22-38116105-C-T
• MyVariant Identifiers: chr22:g.38512112C>T (hg19) ; chr22:g.38116105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38116105C>T , CM000684.2:g.38116105C>T	GRCh38
NC_000022.10:g.38512112C>T , CM000684.1:g.38512112C>T	GRCh37
NC_000022.9:g.36842058C>T	NCBI36
NG_007094.2:g.94586G>A
NG_007094.3:g.103674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1849G>A MANE Select	ENSP00000333142.3:p.Val617Ile
ENST00000427114.6:c.1153G>A	ENSP00000407743.2:p.Val385Ile
ENST00000436218.6:c.*1047G>A	ENSP00000401242.1:n.*1047G>A
ENST00000655142.1:c.*707G>A	ENSP00000499715.1:n.*707G>A
ENST00000660610.1:c.1849G>A	ENSP00000499555.1:p.Val617Ile
ENST00000663895.1:c.1849G>A	ENSP00000499712.1:p.Val617Ile
ENST00000664587.1:c.1711G>A	ENSP00000499394.1:p.Val571Ile
ENST00000665987.1:c.*1588G>A	ENSP00000499423.1:n.*1588G>A
ENST00000667521.1:c.1849G>A	ENSP00000499665.1:p.Val617Ile
ENST00000668499.1:c.*1571G>A	ENSP00000499626.1:n.*1571G>A
ENST00000668949.1:c.1687G>A	ENSP00000499711.1:p.Val563Ile
ENST00000671093.1:n.1781G>A
ENST00000673413.1:c.*1518G>A	ENSP00000500600.1:n.*1518G>A
ENST00000332509.7:c.1849G>A	ENSP00000333142.3:p.Val617Ile
ENST00000335539.7:c.1687G>A	ENSP00000335149.3:p.Val563Ile
ENST00000402064.5:c.1687G>A	ENSP00000386100.1:p.Val563Ile
ENST00000448094.5:c.*454G>A	ENSP00000407106.1:n.*454G>A
ENST00000454670.1:c.585G>A
ENST00000496409.1:n.389G>A
NM_001004426.1:c.1687G>A	NP_001004426.1:p.Val563Ile
NM_001199562.1:c.1687G>A	NP_001186491.1:p.Val563Ile
NM_003560.2:c.1849G>A	NP_003551.2:p.Val617Ile
XM_005261764.1:c.1849G>A	XP_005261821.1:p.Val617Ile
XM_005261765.1:c.1849G>A	XP_005261822.1:p.Val617Ile
XM_005261766.1:c.1849G>A	XP_005261823.1:p.Val617Ile
XM_006724332.2:c.1849G>A	XP_006724395.1:p.Val617Ile
XM_011530422.1:c.1744G>A	XP_011528724.1:p.Val582Ile
XM_011530423.1:c.1315G>A	XP_011528725.1:p.Val439Ile
XM_011530424.1:c.1315G>A	XP_011528726.1:p.Val439Ile
XM_011530425.1:c.1315G>A	XP_011528727.1:p.Val439Ile
XR_244390.1:n.1957G>A
XR_430411.1:n.2009G>A
XR_937937.1:n.2048G>A
XR_937938.1:n.2043G>A
XR_937939.1:n.2100G>A
NM_001004426.2:c.1687G>A	NP_001004426.1:p.Val563Ile
NM_001199562.2:c.1687G>A	NP_001186491.1:p.Val563Ile
NM_001349864.1:c.1849G>A	NP_001336793.1:p.Val617Ile
NM_001349865.1:c.1687G>A	NP_001336794.1:p.Val563Ile
NM_001349866.1:c.1687G>A	NP_001336795.1:p.Val563Ile
NM_001349867.1:c.1315G>A	NP_001336796.1:p.Val439Ile
NM_001349868.1:c.1171G>A	NP_001336797.1:p.Val391Ile
NM_001349869.1:c.1153G>A	NP_001336798.1:p.Val385Ile
NM_003560.3:c.1849G>A	NP_003551.2:p.Val617Ile
XM_005261764.3:c.1849G>A	XP_005261821.1:p.Val617Ile
XM_005261765.2:c.1849G>A	XP_005261822.1:p.Val617Ile
XM_006724332.4:c.1849G>A	XP_006724395.1:p.Val617Ile
XM_017028983.1:c.1153G>A	XP_016884472.1:p.Val385Ile
XM_024452280.1:c.1315G>A	XP_024308048.1:p.Val439Ile
XM_024452281.1:c.1315G>A	XP_024308049.1:p.Val439Ile
XM_024452282.1:c.1315G>A	XP_024308050.1:p.Val439Ile
XM_024452283.1:c.1171G>A	XP_024308051.1:p.Val391Ile
XM_024452284.1:c.1153G>A	XP_024308052.1:p.Val385Ile
XM_024452285.1:c.1153G>A	XP_024308053.1:p.Val385Ile
XR_001755325.2:n.2032G>A
XR_001755327.2:n.2027G>A
XR_001755328.2:n.1993G>A
XR_244390.3:n.1941G>A
XR_937938.3:n.2027G>A
XR_937939.3:n.2084G>A
NM_001199562.3:c.1687G>A	NP_001186491.1:p.Val563Ile
NM_001349864.2:c.1849G>A	NP_001336793.1:p.Val617Ile
NM_001349865.2:c.1687G>A	NP_001336794.1:p.Val563Ile
NM_001349866.2:c.1687G>A	NP_001336795.1:p.Val563Ile
NM_001349867.2:c.1315G>A	NP_001336796.1:p.Val439Ile
NM_001349868.2:c.1171G>A	NP_001336797.1:p.Val391Ile
NM_001349869.2:c.1153G>A	NP_001336798.1:p.Val385Ile
NM_003560.4:c.1849G>A MANE Select	NP_003551.2:p.Val617Ile
NM_001004426.3:c.1687G>A	NP_001004426.1:p.Val563Ile