Canonical Allele Identifier: CA411523068

Gene: PLA2G6

Linked Data

• gnomAD v4: 22-38112213-T-A
• MyVariant Identifiers: chr22:g.38508220T>A (hg19) ; chr22:g.38112213T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38112213T>A , CM000684.2:g.38112213T>A	GRCh38
NC_000022.10:g.38508220T>A , CM000684.1:g.38508220T>A	GRCh37
NC_000022.9:g.36838166T>A	NCBI36
NG_007094.2:g.98478A>T
NG_033059.2:g.3457A>T
NG_007094.3:g.107566A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.2369A>T MANE Select	ENSP00000333142.3:p.Tyr790Phe
ENST00000436218.6:c.*1567A>T	ENSP00000401242.1:n.*1567A>T
ENST00000655142.1:c.*1227A>T	ENSP00000499715.1:n.*1227A>T
ENST00000660610.1:c.2369A>T	ENSP00000499555.1:p.Tyr790Phe
ENST00000663895.1:c.2369A>T	ENSP00000499712.1:p.Tyr790Phe
ENST00000664587.1:c.2231A>T	ENSP00000499394.1:p.Tyr744Phe
ENST00000665987.1:c.*2108A>T	ENSP00000499423.1:n.*2108A>T
ENST00000667521.1:c.2369A>T	ENSP00000499665.1:p.Tyr790Phe
ENST00000668499.1:c.*2228A>T	ENSP00000499626.1:n.*2228A>T
ENST00000668949.1:c.2411A>T	ENSP00000499711.1:p.Tyr804Phe
ENST00000671093.1:n.2301A>T
ENST00000673413.1:c.*2038A>T	ENSP00000500600.1:n.*2038A>T
ENST00000332509.7:c.2369A>T	ENSP00000333142.3:p.Tyr790Phe
ENST00000335539.7:c.2207A>T	ENSP00000335149.3:p.Tyr736Phe
ENST00000402064.5:c.2207A>T	ENSP00000386100.1:p.Tyr736Phe
ENST00000463287.1:n.445A>T
NM_001004426.1:c.2207A>T	NP_001004426.1:p.Tyr736Phe
NM_001199562.1:c.2207A>T	NP_001186491.1:p.Tyr736Phe
NM_003560.2:c.2369A>T	NP_003551.2:p.Tyr790Phe
XM_005261764.1:c.2369A>T	XP_005261821.1:p.Tyr790Phe
XM_005261765.1:c.2369A>T	XP_005261822.1:p.Tyr790Phe
XM_005261766.1:c.2369A>T	XP_005261823.1:p.Tyr790Phe
XM_006724332.2:c.2369A>T	XP_006724395.1:p.Tyr790Phe
XM_011530422.1:c.2264A>T	XP_011528724.1:p.Tyr755Phe
XM_011530423.1:c.1835A>T	XP_011528725.1:p.Tyr612Phe
XM_011530424.1:c.1835A>T	XP_011528726.1:p.Tyr612Phe
XM_011530425.1:c.1835A>T	XP_011528727.1:p.Tyr612Phe
NM_001004426.2:c.2207A>T	NP_001004426.1:p.Tyr736Phe
NM_001199562.2:c.2207A>T	NP_001186491.1:p.Tyr736Phe
NM_001349864.1:c.2369A>T	NP_001336793.1:p.Tyr790Phe
NM_001349865.1:c.2207A>T	NP_001336794.1:p.Tyr736Phe
NM_001349866.1:c.2207A>T	NP_001336795.1:p.Tyr736Phe
NM_001349867.1:c.1835A>T	NP_001336796.1:p.Tyr612Phe
NM_001349868.1:c.1691A>T	NP_001336797.1:p.Tyr564Phe
NM_001349869.1:c.1673A>T	NP_001336798.1:p.Tyr558Phe
NM_003560.3:c.2369A>T	NP_003551.2:p.Tyr790Phe
XM_005261764.3:c.2369A>T	XP_005261821.1:p.Tyr790Phe
XM_005261765.2:c.2369A>T	XP_005261822.1:p.Tyr790Phe
XM_006724332.4:c.2369A>T	XP_006724395.1:p.Tyr790Phe
XM_017028983.1:c.1673A>T	XP_016884472.1:p.Tyr558Phe
XM_024452280.1:c.1835A>T	XP_024308048.1:p.Tyr612Phe
XM_024452281.1:c.1835A>T	XP_024308049.1:p.Tyr612Phe
XM_024452282.1:c.1835A>T	XP_024308050.1:p.Tyr612Phe
XM_024452283.1:c.1691A>T	XP_024308051.1:p.Tyr564Phe
XM_024452284.1:c.1673A>T	XP_024308052.1:p.Tyr558Phe
XM_024452285.1:c.1673A>T	XP_024308053.1:p.Tyr558Phe
XR_001755325.2:n.2552A>T
XR_001755327.2:n.2547A>T
XR_001755328.2:n.2513A>T
NM_001199562.3:c.2207A>T	NP_001186491.1:p.Tyr736Phe
NM_001349864.2:c.2369A>T	NP_001336793.1:p.Tyr790Phe
NM_001349865.2:c.2207A>T	NP_001336794.1:p.Tyr736Phe
NM_001349866.2:c.2207A>T	NP_001336795.1:p.Tyr736Phe
NM_001349867.2:c.1835A>T	NP_001336796.1:p.Tyr612Phe
NM_001349868.2:c.1691A>T	NP_001336797.1:p.Tyr564Phe
NM_001349869.2:c.1673A>T	NP_001336798.1:p.Tyr558Phe
NM_003560.4:c.2369A>T MANE Select	NP_003551.2:p.Tyr790Phe
NM_001004426.3:c.2207A>T	NP_001004426.1:p.Tyr736Phe