Canonical Allele Identifier: CA411527771

Gene: PLA2G6

Linked Data

• dbSNP Id: rs1169996009
• gnomAD v2: 22-38519105-G-T
• gnomAD v4: 22-38123098-G-T
• MyVariant Identifiers: chr22:g.38519105G>T (hg19) ; chr22:g.38123098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38123098G>T , CM000684.2:g.38123098G>T	GRCh38
NC_000022.10:g.38519105G>T , CM000684.1:g.38519105G>T	GRCh37
NC_000022.9:g.36849051G>T	NCBI36
NG_007094.2:g.87593C>A
NG_007094.3:g.96681C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.1588C>A MANE Select	ENSP00000333142.3:p.His530Asn
ENST00000427114.6:c.892C>A	ENSP00000407743.2:p.His298Asn
ENST00000436218.6:c.*786C>A	ENSP00000401242.1:n.*786C>A
ENST00000655142.1:c.*446C>A	ENSP00000499715.1:n.*446C>A
ENST00000660610.1:c.1588C>A	ENSP00000499555.1:p.His530Asn
ENST00000663895.1:c.1588C>A	ENSP00000499712.1:p.His530Asn
ENST00000664587.1:c.1450C>A	ENSP00000499394.1:p.His484Asn
ENST00000665987.1:c.*1327C>A	ENSP00000499423.1:n.*1327C>A
ENST00000667521.1:c.1588C>A	ENSP00000499665.1:p.His530Asn
ENST00000668208.1:n.1556C>A
ENST00000668499.1:c.*1310C>A	ENSP00000499626.1:n.*1310C>A
ENST00000668949.1:c.1426C>A	ENSP00000499711.1:p.His476Asn
ENST00000671093.1:n.1520C>A
ENST00000673413.1:c.*1257C>A	ENSP00000500600.1:n.*1257C>A
ENST00000332509.7:c.1588C>A	ENSP00000333142.3:p.His530Asn
ENST00000335539.7:c.1426C>A	ENSP00000335149.3:p.His476Asn
ENST00000402064.5:c.1426C>A	ENSP00000386100.1:p.His476Asn
ENST00000448094.5:c.*193C>A	ENSP00000407106.1:n.*193C>A
ENST00000454670.1:c.233C>A
ENST00000491986.1:n.599C>A
NM_001004426.1:c.1426C>A	NP_001004426.1:p.His476Asn
NM_001199562.1:c.1426C>A	NP_001186491.1:p.His476Asn
NM_003560.2:c.1588C>A	NP_003551.2:p.His530Asn
XM_005261764.1:c.1588C>A	XP_005261821.1:p.His530Asn
XM_005261765.1:c.1588C>A	XP_005261822.1:p.His530Asn
XM_005261766.1:c.1588C>A	XP_005261823.1:p.His530Asn
XM_006724332.2:c.1588C>A	XP_006724395.1:p.His530Asn
XM_011530422.1:c.1483C>A	XP_011528724.1:p.His495Asn
XM_011530423.1:c.1054C>A	XP_011528725.1:p.His352Asn
XM_011530424.1:c.1054C>A	XP_011528726.1:p.His352Asn
XM_011530425.1:c.1054C>A	XP_011528727.1:p.His352Asn
XM_011530426.1:c.1588C>A	XP_011528728.1:p.His530Asn
XR_244390.1:n.1696C>A
XR_244392.1:n.1749C>A
XR_430411.1:n.1748C>A
XR_430412.1:n.1801C>A
XR_937937.1:n.1696C>A
XR_937938.1:n.1696C>A
XR_937939.1:n.1748C>A
XR_937940.1:n.1748C>A
NM_001004426.2:c.1426C>A	NP_001004426.1:p.His476Asn
NM_001199562.2:c.1426C>A	NP_001186491.1:p.His476Asn
NM_001349864.1:c.1588C>A	NP_001336793.1:p.His530Asn
NM_001349865.1:c.1426C>A	NP_001336794.1:p.His476Asn
NM_001349866.1:c.1426C>A	NP_001336795.1:p.His476Asn
NM_001349867.1:c.1054C>A	NP_001336796.1:p.His352Asn
NM_001349868.1:c.910C>A	NP_001336797.1:p.His304Asn
NM_001349869.1:c.892C>A	NP_001336798.1:p.His298Asn
NM_003560.3:c.1588C>A	NP_003551.2:p.His530Asn
XM_005261764.3:c.1588C>A	XP_005261821.1:p.His530Asn
XM_005261765.2:c.1588C>A	XP_005261822.1:p.His530Asn
XM_006724332.4:c.1588C>A	XP_006724395.1:p.His530Asn
XM_011530426.3:c.1588C>A	XP_011528728.1:p.His530Asn
XM_017028983.1:c.892C>A	XP_016884472.1:p.His298Asn
XM_017028986.2:c.1426C>A	XP_016884475.1:p.His476Asn
XM_024452280.1:c.1054C>A	XP_024308048.1:p.His352Asn
XM_024452281.1:c.1054C>A	XP_024308049.1:p.His352Asn
XM_024452282.1:c.1054C>A	XP_024308050.1:p.His352Asn
XM_024452283.1:c.910C>A	XP_024308051.1:p.His304Asn
XM_024452284.1:c.892C>A	XP_024308052.1:p.His298Asn
XM_024452285.1:c.892C>A	XP_024308053.1:p.His298Asn
XR_001755325.2:n.1680C>A
XR_001755327.2:n.1680C>A
XR_001755328.2:n.1732C>A
XR_244390.3:n.1680C>A
XR_937938.3:n.1680C>A
XR_937939.3:n.1732C>A
XR_937940.3:n.1732C>A
NM_001199562.3:c.1426C>A	NP_001186491.1:p.His476Asn
NM_001349864.2:c.1588C>A	NP_001336793.1:p.His530Asn
NM_001349865.2:c.1426C>A	NP_001336794.1:p.His476Asn
NM_001349866.2:c.1426C>A	NP_001336795.1:p.His476Asn
NM_001349867.2:c.1054C>A	NP_001336796.1:p.His352Asn
NM_001349868.2:c.910C>A	NP_001336797.1:p.His304Asn
NM_001349869.2:c.892C>A	NP_001336798.1:p.His298Asn
NM_003560.4:c.1588C>A MANE Select	NP_003551.2:p.His530Asn
NM_001004426.3:c.1426C>A	NP_001004426.1:p.His476Asn