Canonical Allele Identifier: CA173260

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 159763
• ClinVar RCV Id: RCV000147318 ; RCV000489829
• dbSNP Id: rs587784351
• gnomAD v4: 22-38112534-C-G
• MyVariant Identifiers: chr22:g.38508541C>G (hg19) ; chr22:g.38112534C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38112534C>G , CM000684.2:g.38112534C>G	GRCh38
NC_000022.10:g.38508541C>G , CM000684.1:g.38508541C>G	GRCh37
NC_000022.9:g.36838487C>G	NCBI36
NG_007094.2:g.98157G>C
NG_033059.2:g.3136G>C
NG_007094.3:g.107245G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.2246G>C MANE Select	ENSP00000333142.3:p.Trp749Ser
ENST00000436218.6:c.*1444G>C	ENSP00000401242.1:n.*1444G>C
ENST00000655142.1:c.*1104G>C	ENSP00000499715.1:n.*1104G>C
ENST00000660610.1:c.2246G>C	ENSP00000499555.1:p.Trp749Ser
ENST00000663895.1:c.2246G>C	ENSP00000499712.1:p.Trp749Ser
ENST00000664587.1:c.2108G>C	ENSP00000499394.1:p.Trp703Ser
ENST00000665987.1:c.*1985G>C	ENSP00000499423.1:n.*1985G>C
ENST00000667521.1:c.2246G>C	ENSP00000499665.1:p.Trp749Ser
ENST00000668499.1:c.*2105G>C	ENSP00000499626.1:n.*2105G>C
ENST00000668949.1:c.2288G>C	ENSP00000499711.1:p.Trp763Ser
ENST00000671093.1:n.2178G>C
ENST00000673413.1:c.*1915G>C	ENSP00000500600.1:n.*1915G>C
ENST00000332509.7:c.2246G>C	ENSP00000333142.3:p.Trp749Ser
ENST00000335539.7:c.2084G>C	ENSP00000335149.3:p.Trp695Ser
ENST00000402064.5:c.2084G>C	ENSP00000386100.1:p.Trp695Ser
ENST00000463287.1:n.322G>C
NM_001004426.1:c.2084G>C	NP_001004426.1:p.Trp695Ser
NM_001199562.1:c.2084G>C	NP_001186491.1:p.Trp695Ser
NM_003560.2:c.2246G>C	NP_003551.2:p.Trp749Ser
XM_005261764.1:c.2246G>C	XP_005261821.1:p.Trp749Ser
XM_005261765.1:c.2246G>C	XP_005261822.1:p.Trp749Ser
XM_005261766.1:c.2246G>C	XP_005261823.1:p.Trp749Ser
XM_006724332.2:c.2246G>C	XP_006724395.1:p.Trp749Ser
XM_011530422.1:c.2141G>C	XP_011528724.1:p.Trp714Ser
XM_011530423.1:c.1712G>C	XP_011528725.1:p.Trp571Ser
XM_011530424.1:c.1712G>C	XP_011528726.1:p.Trp571Ser
XM_011530425.1:c.1712G>C	XP_011528727.1:p.Trp571Ser
NM_001004426.2:c.2084G>C	NP_001004426.1:p.Trp695Ser
NM_001199562.2:c.2084G>C	NP_001186491.1:p.Trp695Ser
NM_001349864.1:c.2246G>C	NP_001336793.1:p.Trp749Ser
NM_001349865.1:c.2084G>C	NP_001336794.1:p.Trp695Ser
NM_001349866.1:c.2084G>C	NP_001336795.1:p.Trp695Ser
NM_001349867.1:c.1712G>C	NP_001336796.1:p.Trp571Ser
NM_001349868.1:c.1568G>C	NP_001336797.1:p.Trp523Ser
NM_001349869.1:c.1550G>C	NP_001336798.1:p.Trp517Ser
NM_003560.3:c.2246G>C	NP_003551.2:p.Trp749Ser
XM_005261764.3:c.2246G>C	XP_005261821.1:p.Trp749Ser
XM_005261765.2:c.2246G>C	XP_005261822.1:p.Trp749Ser
XM_006724332.4:c.2246G>C	XP_006724395.1:p.Trp749Ser
XM_017028983.1:c.1550G>C	XP_016884472.1:p.Trp517Ser
XM_024452280.1:c.1712G>C	XP_024308048.1:p.Trp571Ser
XM_024452281.1:c.1712G>C	XP_024308049.1:p.Trp571Ser
XM_024452282.1:c.1712G>C	XP_024308050.1:p.Trp571Ser
XM_024452283.1:c.1568G>C	XP_024308051.1:p.Trp523Ser
XM_024452284.1:c.1550G>C	XP_024308052.1:p.Trp517Ser
XM_024452285.1:c.1550G>C	XP_024308053.1:p.Trp517Ser
XR_001755325.2:n.2429G>C
XR_001755327.2:n.2424G>C
XR_001755328.2:n.2390G>C
NM_001199562.3:c.2084G>C	NP_001186491.1:p.Trp695Ser
NM_001349864.2:c.2246G>C	NP_001336793.1:p.Trp749Ser
NM_001349865.2:c.2084G>C	NP_001336794.1:p.Trp695Ser
NM_001349866.2:c.2084G>C	NP_001336795.1:p.Trp695Ser
NM_001349867.2:c.1712G>C	NP_001336796.1:p.Trp571Ser
NM_001349868.2:c.1568G>C	NP_001336797.1:p.Trp523Ser
NM_001349869.2:c.1550G>C	NP_001336798.1:p.Trp517Ser
NM_003560.4:c.2246G>C MANE Select	NP_003551.2:p.Trp749Ser
NM_001004426.3:c.2084G>C	NP_001004426.1:p.Trp695Ser