Canonical Allele Identifier: CA514542295

Gene: PLA2G6

Linked Data

• dbSNP Id: rs1459543347
• gnomAD v2: 22-38509509-C-T
• gnomAD v4: 22-38113502-C-T
• COSMIC: COSM1484234
• MyVariant Identifiers: chr22:g.38509509C>T (hg19) ; chr22:g.38113502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38113502C>T , CM000684.2:g.38113502C>T	GRCh38
NC_000022.10:g.38509509C>T , CM000684.1:g.38509509C>T	GRCh37
NC_000022.9:g.36839455C>T	NCBI36
NG_007094.2:g.97189G>A
NG_033059.2:g.2168G>A
NG_007094.3:g.106277G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.2187G>A MANE Select	ENSP00000333142.3:p.Lys729=
ENST00000436218.6:c.*1385G>A	ENSP00000401242.1:n.*1385G>A
ENST00000655142.1:c.*1045G>A	ENSP00000499715.1:n.*1045G>A
ENST00000660610.1:c.2187G>A	ENSP00000499555.1:p.Lys729=
ENST00000663895.1:c.2187G>A	ENSP00000499712.1:p.Lys729=
ENST00000664587.1:c.2049G>A	ENSP00000499394.1:p.Lys683=
ENST00000665987.1:c.*1926G>A	ENSP00000499423.1:n.*1926G>A
ENST00000667521.1:c.2187G>A	ENSP00000499665.1:p.Lys729=
ENST00000668499.1:c.*2046G>A	ENSP00000499626.1:n.*2046G>A
ENST00000668949.1:c.2229G>A	ENSP00000499711.1:p.Lys743=
ENST00000671093.1:n.2119G>A
ENST00000673413.1:c.*1856G>A	ENSP00000500600.1:n.*1856G>A
ENST00000332509.7:c.2187G>A	ENSP00000333142.3:p.Lys729=
ENST00000335539.7:c.2025G>A	ENSP00000335149.3:p.Lys675=
ENST00000402064.5:c.2025G>A	ENSP00000386100.1:p.Lys675=
NM_001004426.1:c.2025G>A	NP_001004426.1:p.Lys675=
NM_001199562.1:c.2025G>A	NP_001186491.1:p.Lys675=
NM_003560.2:c.2187G>A	NP_003551.2:p.Lys729=
XM_005261764.1:c.2187G>A	XP_005261821.1:p.Lys729=
XM_005261765.1:c.2187G>A	XP_005261822.1:p.Lys729=
XM_005261766.1:c.2187G>A	XP_005261823.1:p.Lys729=
XM_006724332.2:c.2187G>A	XP_006724395.1:p.Lys729=
XM_011530422.1:c.2082G>A	XP_011528724.1:p.Lys694=
XM_011530423.1:c.1653G>A	XP_011528725.1:p.Lys551=
XM_011530424.1:c.1653G>A	XP_011528726.1:p.Lys551=
XM_011530425.1:c.1653G>A	XP_011528727.1:p.Lys551=
XR_430411.1:n.2347G>A
NM_001004426.2:c.2025G>A	NP_001004426.1:p.Lys675=
NM_001199562.2:c.2025G>A	NP_001186491.1:p.Lys675=
NM_001349864.1:c.2187G>A	NP_001336793.1:p.Lys729=
NM_001349865.1:c.2025G>A	NP_001336794.1:p.Lys675=
NM_001349866.1:c.2025G>A	NP_001336795.1:p.Lys675=
NM_001349867.1:c.1653G>A	NP_001336796.1:p.Lys551=
NM_001349868.1:c.1509G>A	NP_001336797.1:p.Lys503=
NM_001349869.1:c.1491G>A	NP_001336798.1:p.Lys497=
NM_003560.3:c.2187G>A	NP_003551.2:p.Lys729=
XM_005261764.3:c.2187G>A	XP_005261821.1:p.Lys729=
XM_005261765.2:c.2187G>A	XP_005261822.1:p.Lys729=
XM_006724332.4:c.2187G>A	XP_006724395.1:p.Lys729=
XM_017028983.1:c.1491G>A	XP_016884472.1:p.Lys497=
XM_024452280.1:c.1653G>A	XP_024308048.1:p.Lys551=
XM_024452281.1:c.1653G>A	XP_024308049.1:p.Lys551=
XM_024452282.1:c.1653G>A	XP_024308050.1:p.Lys551=
XM_024452283.1:c.1509G>A	XP_024308051.1:p.Lys503=
XM_024452284.1:c.1491G>A	XP_024308052.1:p.Lys497=
XM_024452285.1:c.1491G>A	XP_024308053.1:p.Lys497=
XR_001755325.2:n.2370G>A
XR_001755327.2:n.2365G>A
XR_001755328.2:n.2331G>A
NM_001199562.3:c.2025G>A	NP_001186491.1:p.Lys675=
NM_001349864.2:c.2187G>A	NP_001336793.1:p.Lys729=
NM_001349865.2:c.2025G>A	NP_001336794.1:p.Lys675=
NM_001349866.2:c.2025G>A	NP_001336795.1:p.Lys675=
NM_001349867.2:c.1653G>A	NP_001336796.1:p.Lys551=
NM_001349868.2:c.1509G>A	NP_001336797.1:p.Lys503=
NM_001349869.2:c.1491G>A	NP_001336798.1:p.Lys497=
NM_003560.4:c.2187G>A MANE Select	NP_003551.2:p.Lys729=
NM_001004426.3:c.2025G>A	NP_001004426.1:p.Lys675=