Canonical Allele Identifier: CA411524755

Gene: PLA2G6

Linked Data

• MyVariant Identifiers: chr22:g.38511620A>G (hg19) ; chr22:g.38115613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38115613A>G , CM000684.2:g.38115613A>G	GRCh38
NC_000022.10:g.38511620A>G , CM000684.1:g.38511620A>G	GRCh37
NC_000022.9:g.36841566A>G	NCBI36
NG_007094.2:g.95078T>C
NG_033059.2:g.57T>C
NG_007094.3:g.104166T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1948T>C MANE Select	ENSP00000333142.3:p.Phe650Leu
ENST00000427114.6:c.1252T>C	ENSP00000407743.2:p.Phe418Leu
ENST00000436218.6:c.*1146T>C	ENSP00000401242.1:n.*1146T>C
ENST00000655142.1:c.*806T>C	ENSP00000499715.1:n.*806T>C
ENST00000660610.1:c.1948T>C	ENSP00000499555.1:p.Phe650Leu
ENST00000663895.1:c.1948T>C	ENSP00000499712.1:p.Phe650Leu
ENST00000664587.1:c.1810T>C	ENSP00000499394.1:p.Phe604Leu
ENST00000665987.1:c.*1687T>C	ENSP00000499423.1:n.*1687T>C
ENST00000667521.1:c.1948T>C	ENSP00000499665.1:p.Phe650Leu
ENST00000668499.1:c.*1670T>C	ENSP00000499626.1:n.*1670T>C
ENST00000668949.1:c.1786T>C	ENSP00000499711.1:p.Phe596Leu
ENST00000671093.1:n.1880T>C
ENST00000673413.1:c.*1617T>C	ENSP00000500600.1:n.*1617T>C
ENST00000332509.7:c.1948T>C	ENSP00000333142.3:p.Phe650Leu
ENST00000335539.7:c.1786T>C	ENSP00000335149.3:p.Phe596Leu
ENST00000402064.5:c.1786T>C	ENSP00000386100.1:p.Phe596Leu
ENST00000454670.1:c.684T>C
ENST00000496409.1:n.656T>C
NM_001004426.1:c.1786T>C	NP_001004426.1:p.Phe596Leu
NM_001199562.1:c.1786T>C	NP_001186491.1:p.Phe596Leu
NM_003560.2:c.1948T>C	NP_003551.2:p.Phe650Leu
XM_005261764.1:c.1948T>C	XP_005261821.1:p.Phe650Leu
XM_005261765.1:c.1948T>C	XP_005261822.1:p.Phe650Leu
XM_005261766.1:c.1948T>C	XP_005261823.1:p.Phe650Leu
XM_006724332.2:c.1948T>C	XP_006724395.1:p.Phe650Leu
XM_011530422.1:c.1843T>C	XP_011528724.1:p.Phe615Leu
XM_011530423.1:c.1414T>C	XP_011528725.1:p.Phe472Leu
XM_011530424.1:c.1414T>C	XP_011528726.1:p.Phe472Leu
XM_011530425.1:c.1414T>C	XP_011528727.1:p.Phe472Leu
XR_244390.1:n.2224T>C
XR_430411.1:n.2108T>C
XR_937937.1:n.2147T>C
XR_937938.1:n.2310T>C
XR_937939.1:n.2199T>C
NM_001004426.2:c.1786T>C	NP_001004426.1:p.Phe596Leu
NM_001199562.2:c.1786T>C	NP_001186491.1:p.Phe596Leu
NM_001349864.1:c.1948T>C	NP_001336793.1:p.Phe650Leu
NM_001349865.1:c.1786T>C	NP_001336794.1:p.Phe596Leu
NM_001349866.1:c.1786T>C	NP_001336795.1:p.Phe596Leu
NM_001349867.1:c.1414T>C	NP_001336796.1:p.Phe472Leu
NM_001349868.1:c.1270T>C	NP_001336797.1:p.Phe424Leu
NM_001349869.1:c.1252T>C	NP_001336798.1:p.Phe418Leu
NM_003560.3:c.1948T>C	NP_003551.2:p.Phe650Leu
XM_005261764.3:c.1948T>C	XP_005261821.1:p.Phe650Leu
XM_005261765.2:c.1948T>C	XP_005261822.1:p.Phe650Leu
XM_006724332.4:c.1948T>C	XP_006724395.1:p.Phe650Leu
XM_017028983.1:c.1252T>C	XP_016884472.1:p.Phe418Leu
XM_024452280.1:c.1414T>C	XP_024308048.1:p.Phe472Leu
XM_024452281.1:c.1414T>C	XP_024308049.1:p.Phe472Leu
XM_024452282.1:c.1414T>C	XP_024308050.1:p.Phe472Leu
XM_024452283.1:c.1270T>C	XP_024308051.1:p.Phe424Leu
XM_024452284.1:c.1252T>C	XP_024308052.1:p.Phe418Leu
XM_024452285.1:c.1252T>C	XP_024308053.1:p.Phe418Leu
XR_001755325.2:n.2131T>C
XR_001755327.2:n.2126T>C
XR_001755328.2:n.2092T>C
XR_244390.3:n.2208T>C
XR_937938.3:n.2294T>C
XR_937939.3:n.2183T>C
NM_001199562.3:c.1786T>C	NP_001186491.1:p.Phe596Leu
NM_001349864.2:c.1948T>C	NP_001336793.1:p.Phe650Leu
NM_001349865.2:c.1786T>C	NP_001336794.1:p.Phe596Leu
NM_001349866.2:c.1786T>C	NP_001336795.1:p.Phe596Leu
NM_001349867.2:c.1414T>C	NP_001336796.1:p.Phe472Leu
NM_001349868.2:c.1270T>C	NP_001336797.1:p.Phe424Leu
NM_001349869.2:c.1252T>C	NP_001336798.1:p.Phe418Leu
NM_003560.4:c.1948T>C MANE Select	NP_003551.2:p.Phe650Leu
NM_001004426.3:c.1786T>C	NP_001004426.1:p.Phe596Leu