Canonical Allele Identifier: CA411524884

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 2748479
• ClinVar RCV Id: RCV003506939
• gnomAD v4: 22-38115679-G-A
• MyVariant Identifiers: chr22:g.38511686G>A (hg19) ; chr22:g.38115679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38115679G>A , CM000684.2:g.38115679G>A	GRCh38
NC_000022.10:g.38511686G>A , CM000684.1:g.38511686G>A	GRCh37
NC_000022.9:g.36841632G>A	NCBI36
NG_007094.2:g.95012C>T
NG_007094.3:g.104100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1882C>T MANE Select	ENSP00000333142.3:p.Gln628Ter
ENST00000427114.6:c.1186C>T	ENSP00000407743.2:p.Gln396Ter
ENST00000436218.6:c.*1080C>T	ENSP00000401242.1:n.*1080C>T
ENST00000655142.1:c.*740C>T	ENSP00000499715.1:n.*740C>T
ENST00000660610.1:c.1882C>T	ENSP00000499555.1:p.Gln628Ter
ENST00000663895.1:c.1882C>T	ENSP00000499712.1:p.Gln628Ter
ENST00000664587.1:c.1744C>T	ENSP00000499394.1:p.Gln582Ter
ENST00000665987.1:c.*1621C>T	ENSP00000499423.1:n.*1621C>T
ENST00000667521.1:c.1882C>T	ENSP00000499665.1:p.Gln628Ter
ENST00000668499.1:c.*1604C>T	ENSP00000499626.1:n.*1604C>T
ENST00000668949.1:c.1720C>T	ENSP00000499711.1:p.Gln574Ter
ENST00000671093.1:n.1814C>T
ENST00000673413.1:c.*1551C>T	ENSP00000500600.1:n.*1551C>T
ENST00000332509.7:c.1882C>T	ENSP00000333142.3:p.Gln628Ter
ENST00000335539.7:c.1720C>T	ENSP00000335149.3:p.Gln574Ter
ENST00000402064.5:c.1720C>T	ENSP00000386100.1:p.Gln574Ter
ENST00000454670.1:c.618C>T
ENST00000496409.1:n.590C>T
NM_001004426.1:c.1720C>T	NP_001004426.1:p.Gln574Ter
NM_001199562.1:c.1720C>T	NP_001186491.1:p.Gln574Ter
NM_003560.2:c.1882C>T	NP_003551.2:p.Gln628Ter
XM_005261764.1:c.1882C>T	XP_005261821.1:p.Gln628Ter
XM_005261765.1:c.1882C>T	XP_005261822.1:p.Gln628Ter
XM_005261766.1:c.1882C>T	XP_005261823.1:p.Gln628Ter
XM_006724332.2:c.1882C>T	XP_006724395.1:p.Gln628Ter
XM_011530422.1:c.1777C>T	XP_011528724.1:p.Gln593Ter
XM_011530423.1:c.1348C>T	XP_011528725.1:p.Gln450Ter
XM_011530424.1:c.1348C>T	XP_011528726.1:p.Gln450Ter
XM_011530425.1:c.1348C>T	XP_011528727.1:p.Gln450Ter
XR_244390.1:n.2158C>T
XR_430411.1:n.2042C>T
XR_937937.1:n.2081C>T
XR_937938.1:n.2244C>T
XR_937939.1:n.2133C>T
NM_001004426.2:c.1720C>T	NP_001004426.1:p.Gln574Ter
NM_001199562.2:c.1720C>T	NP_001186491.1:p.Gln574Ter
NM_001349864.1:c.1882C>T	NP_001336793.1:p.Gln628Ter
NM_001349865.1:c.1720C>T	NP_001336794.1:p.Gln574Ter
NM_001349866.1:c.1720C>T	NP_001336795.1:p.Gln574Ter
NM_001349867.1:c.1348C>T	NP_001336796.1:p.Gln450Ter
NM_001349868.1:c.1204C>T	NP_001336797.1:p.Gln402Ter
NM_001349869.1:c.1186C>T	NP_001336798.1:p.Gln396Ter
NM_003560.3:c.1882C>T	NP_003551.2:p.Gln628Ter
XM_005261764.3:c.1882C>T	XP_005261821.1:p.Gln628Ter
XM_005261765.2:c.1882C>T	XP_005261822.1:p.Gln628Ter
XM_006724332.4:c.1882C>T	XP_006724395.1:p.Gln628Ter
XM_017028983.1:c.1186C>T	XP_016884472.1:p.Gln396Ter
XM_024452280.1:c.1348C>T	XP_024308048.1:p.Gln450Ter
XM_024452281.1:c.1348C>T	XP_024308049.1:p.Gln450Ter
XM_024452282.1:c.1348C>T	XP_024308050.1:p.Gln450Ter
XM_024452283.1:c.1204C>T	XP_024308051.1:p.Gln402Ter
XM_024452284.1:c.1186C>T	XP_024308052.1:p.Gln396Ter
XM_024452285.1:c.1186C>T	XP_024308053.1:p.Gln396Ter
XR_001755325.2:n.2065C>T
XR_001755327.2:n.2060C>T
XR_001755328.2:n.2026C>T
XR_244390.3:n.2142C>T
XR_937938.3:n.2228C>T
XR_937939.3:n.2117C>T
NM_001199562.3:c.1720C>T	NP_001186491.1:p.Gln574Ter
NM_001349864.2:c.1882C>T	NP_001336793.1:p.Gln628Ter
NM_001349865.2:c.1720C>T	NP_001336794.1:p.Gln574Ter
NM_001349866.2:c.1720C>T	NP_001336795.1:p.Gln574Ter
NM_001349867.2:c.1348C>T	NP_001336796.1:p.Gln450Ter
NM_001349868.2:c.1204C>T	NP_001336797.1:p.Gln402Ter
NM_001349869.2:c.1186C>T	NP_001336798.1:p.Gln396Ter
NM_003560.4:c.1882C>T MANE Select	NP_003551.2:p.Gln628Ter
NM_001004426.3:c.1720C>T	NP_001004426.1:p.Gln574Ter