Canonical Allele Identifier: CA10230608

Gene: PLA2G6

Linked Data

• dbSNP Id: rs758614116
• ExAC: 22:38509658 G / A
• gnomAD v2: 22-38509658-G-A
• gnomAD v4: 22-38113651-G-A
• COSMIC: COSM1637791
• MyVariant Identifiers: chr22:g.38509658G>A (hg19) ; chr22:g.38113651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38113651G>A , CM000684.2:g.38113651G>A	GRCh38
NC_000022.10:g.38509658G>A , CM000684.1:g.38509658G>A	GRCh37
NC_000022.9:g.36839604G>A	NCBI36
NG_007094.2:g.97040C>T
NG_033059.2:g.2019C>T
NG_007094.3:g.106128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.2038C>T MANE Select	ENSP00000333142.3:p.Gln680Ter
ENST00000436218.6:c.*1236C>T	ENSP00000401242.1:n.*1236C>T
ENST00000655142.1:c.*896C>T	ENSP00000499715.1:n.*896C>T
ENST00000660610.1:c.2038C>T	ENSP00000499555.1:p.Gln680Ter
ENST00000663895.1:c.2038C>T	ENSP00000499712.1:p.Gln680Ter
ENST00000664587.1:c.1900C>T	ENSP00000499394.1:p.Gln634Ter
ENST00000665987.1:c.*1777C>T	ENSP00000499423.1:n.*1777C>T
ENST00000667521.1:c.2038C>T	ENSP00000499665.1:p.Gln680Ter
ENST00000668499.1:c.*1897C>T	ENSP00000499626.1:n.*1897C>T
ENST00000668949.1:c.2080C>T	ENSP00000499711.1:p.Gln694Ter
ENST00000671093.1:n.1970C>T
ENST00000673413.1:c.*1707C>T	ENSP00000500600.1:n.*1707C>T
ENST00000332509.7:c.2038C>T	ENSP00000333142.3:p.Gln680Ter
ENST00000335539.7:c.1876C>T	ENSP00000335149.3:p.Gln626Ter
ENST00000402064.5:c.1876C>T	ENSP00000386100.1:p.Gln626Ter
ENST00000496409.1:n.746C>T
NM_001004426.1:c.1876C>T	NP_001004426.1:p.Gln626Ter
NM_001199562.1:c.1876C>T	NP_001186491.1:p.Gln626Ter
NM_003560.2:c.2038C>T	NP_003551.2:p.Gln680Ter
XM_005261764.1:c.2038C>T	XP_005261821.1:p.Gln680Ter
XM_005261765.1:c.2038C>T	XP_005261822.1:p.Gln680Ter
XM_005261766.1:c.2038C>T	XP_005261823.1:p.Gln680Ter
XM_006724332.2:c.2038C>T	XP_006724395.1:p.Gln680Ter
XM_011530422.1:c.1933C>T	XP_011528724.1:p.Gln645Ter
XM_011530423.1:c.1504C>T	XP_011528725.1:p.Gln502Ter
XM_011530424.1:c.1504C>T	XP_011528726.1:p.Gln502Ter
XM_011530425.1:c.1504C>T	XP_011528727.1:p.Gln502Ter
XR_244390.1:n.2314C>T
XR_430411.1:n.2198C>T
XR_937938.1:n.2400C>T
NM_001004426.2:c.1876C>T	NP_001004426.1:p.Gln626Ter
NM_001199562.2:c.1876C>T	NP_001186491.1:p.Gln626Ter
NM_001349864.1:c.2038C>T	NP_001336793.1:p.Gln680Ter
NM_001349865.1:c.1876C>T	NP_001336794.1:p.Gln626Ter
NM_001349866.1:c.1876C>T	NP_001336795.1:p.Gln626Ter
NM_001349867.1:c.1504C>T	NP_001336796.1:p.Gln502Ter
NM_001349868.1:c.1360C>T	NP_001336797.1:p.Gln454Ter
NM_001349869.1:c.1342C>T	NP_001336798.1:p.Gln448Ter
NM_003560.3:c.2038C>T	NP_003551.2:p.Gln680Ter
XM_005261764.3:c.2038C>T	XP_005261821.1:p.Gln680Ter
XM_005261765.2:c.2038C>T	XP_005261822.1:p.Gln680Ter
XM_006724332.4:c.2038C>T	XP_006724395.1:p.Gln680Ter
XM_017028983.1:c.1342C>T	XP_016884472.1:p.Gln448Ter
XM_024452280.1:c.1504C>T	XP_024308048.1:p.Gln502Ter
XM_024452281.1:c.1504C>T	XP_024308049.1:p.Gln502Ter
XM_024452282.1:c.1504C>T	XP_024308050.1:p.Gln502Ter
XM_024452283.1:c.1360C>T	XP_024308051.1:p.Gln454Ter
XM_024452284.1:c.1342C>T	XP_024308052.1:p.Gln448Ter
XM_024452285.1:c.1342C>T	XP_024308053.1:p.Gln448Ter
XR_001755325.2:n.2221C>T
XR_001755327.2:n.2216C>T
XR_001755328.2:n.2182C>T
XR_244390.3:n.2298C>T
XR_937938.3:n.2384C>T
NM_001199562.3:c.1876C>T	NP_001186491.1:p.Gln626Ter
NM_001349864.2:c.2038C>T	NP_001336793.1:p.Gln680Ter
NM_001349865.2:c.1876C>T	NP_001336794.1:p.Gln626Ter
NM_001349866.2:c.1876C>T	NP_001336795.1:p.Gln626Ter
NM_001349867.2:c.1504C>T	NP_001336796.1:p.Gln502Ter
NM_001349868.2:c.1360C>T	NP_001336797.1:p.Gln454Ter
NM_001349869.2:c.1342C>T	NP_001336798.1:p.Gln448Ter
NM_003560.4:c.2038C>T MANE Select	NP_003551.2:p.Gln680Ter
NM_001004426.3:c.1876C>T	NP_001004426.1:p.Gln626Ter