Canonical Allele Identifier: CA10230536

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 2014748
• ClinVar RCV Id: RCV002861637
• dbSNP Id: rs761874020
• ExAC: 22:38508273 C / A
• gnomAD v2: 22-38508273-C-A
• gnomAD v4: 22-38112266-C-A
• MyVariant Identifiers: chr22:g.38508273C>A (hg19) ; chr22:g.38112266C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38112266C>A , CM000684.2:g.38112266C>A	GRCh38
NC_000022.10:g.38508273C>A , CM000684.1:g.38508273C>A	GRCh37
NC_000022.9:g.36838219C>A	NCBI36
NG_007094.2:g.98425G>T
NG_033059.2:g.3404G>T
NG_007094.3:g.107513G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.2316G>T MANE Select	ENSP00000333142.3:p.Glu772Asp
ENST00000436218.6:c.*1514G>T	ENSP00000401242.1:n.*1514G>T
ENST00000655142.1:c.*1174G>T	ENSP00000499715.1:n.*1174G>T
ENST00000660610.1:c.2316G>T	ENSP00000499555.1:p.Glu772Asp
ENST00000663895.1:c.2316G>T	ENSP00000499712.1:p.Glu772Asp
ENST00000664587.1:c.2178G>T	ENSP00000499394.1:p.Glu726Asp
ENST00000665987.1:c.*2055G>T	ENSP00000499423.1:n.*2055G>T
ENST00000667521.1:c.2316G>T	ENSP00000499665.1:p.Glu772Asp
ENST00000668499.1:c.*2175G>T	ENSP00000499626.1:n.*2175G>T
ENST00000668949.1:c.2358G>T	ENSP00000499711.1:p.Glu786Asp
ENST00000671093.1:n.2248G>T
ENST00000673413.1:c.*1985G>T	ENSP00000500600.1:n.*1985G>T
ENST00000332509.7:c.2316G>T	ENSP00000333142.3:p.Glu772Asp
ENST00000335539.7:c.2154G>T	ENSP00000335149.3:p.Glu718Asp
ENST00000402064.5:c.2154G>T	ENSP00000386100.1:p.Glu718Asp
ENST00000463287.1:n.392G>T
NM_001004426.1:c.2154G>T	NP_001004426.1:p.Glu718Asp
NM_001199562.1:c.2154G>T	NP_001186491.1:p.Glu718Asp
NM_003560.2:c.2316G>T	NP_003551.2:p.Glu772Asp
XM_005261764.1:c.2316G>T	XP_005261821.1:p.Glu772Asp
XM_005261765.1:c.2316G>T	XP_005261822.1:p.Glu772Asp
XM_005261766.1:c.2316G>T	XP_005261823.1:p.Glu772Asp
XM_006724332.2:c.2316G>T	XP_006724395.1:p.Glu772Asp
XM_011530422.1:c.2211G>T	XP_011528724.1:p.Glu737Asp
XM_011530423.1:c.1782G>T	XP_011528725.1:p.Glu594Asp
XM_011530424.1:c.1782G>T	XP_011528726.1:p.Glu594Asp
XM_011530425.1:c.1782G>T	XP_011528727.1:p.Glu594Asp
NM_001004426.2:c.2154G>T	NP_001004426.1:p.Glu718Asp
NM_001199562.2:c.2154G>T	NP_001186491.1:p.Glu718Asp
NM_001349864.1:c.2316G>T	NP_001336793.1:p.Glu772Asp
NM_001349865.1:c.2154G>T	NP_001336794.1:p.Glu718Asp
NM_001349866.1:c.2154G>T	NP_001336795.1:p.Glu718Asp
NM_001349867.1:c.1782G>T	NP_001336796.1:p.Glu594Asp
NM_001349868.1:c.1638G>T	NP_001336797.1:p.Glu546Asp
NM_001349869.1:c.1620G>T	NP_001336798.1:p.Glu540Asp
NM_003560.3:c.2316G>T	NP_003551.2:p.Glu772Asp
XM_005261764.3:c.2316G>T	XP_005261821.1:p.Glu772Asp
XM_005261765.2:c.2316G>T	XP_005261822.1:p.Glu772Asp
XM_006724332.4:c.2316G>T	XP_006724395.1:p.Glu772Asp
XM_017028983.1:c.1620G>T	XP_016884472.1:p.Glu540Asp
XM_024452280.1:c.1782G>T	XP_024308048.1:p.Glu594Asp
XM_024452281.1:c.1782G>T	XP_024308049.1:p.Glu594Asp
XM_024452282.1:c.1782G>T	XP_024308050.1:p.Glu594Asp
XM_024452283.1:c.1638G>T	XP_024308051.1:p.Glu546Asp
XM_024452284.1:c.1620G>T	XP_024308052.1:p.Glu540Asp
XM_024452285.1:c.1620G>T	XP_024308053.1:p.Glu540Asp
XR_001755325.2:n.2499G>T
XR_001755327.2:n.2494G>T
XR_001755328.2:n.2460G>T
NM_001199562.3:c.2154G>T	NP_001186491.1:p.Glu718Asp
NM_001349864.2:c.2316G>T	NP_001336793.1:p.Glu772Asp
NM_001349865.2:c.2154G>T	NP_001336794.1:p.Glu718Asp
NM_001349866.2:c.2154G>T	NP_001336795.1:p.Glu718Asp
NM_001349867.2:c.1782G>T	NP_001336796.1:p.Glu594Asp
NM_001349868.2:c.1638G>T	NP_001336797.1:p.Glu546Asp
NM_001349869.2:c.1620G>T	NP_001336798.1:p.Glu540Asp
NM_003560.4:c.2316G>T MANE Select	NP_003551.2:p.Glu772Asp
NM_001004426.3:c.2154G>T	NP_001004426.1:p.Glu718Asp