Canonical Allele Identifier: CA324178721

Gene: PLA2G6

Linked Data

• dbSNP Id: rs201346537
• gnomAD v3: 22-38113640-C-G
• gnomAD v4: 22-38113640-C-G
• MyVariant Identifiers: chr22:g.38509647C>G (hg19) ; chr22:g.38113640C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38113640C>G , CM000684.2:g.38113640C>G	GRCh38
NC_000022.10:g.38509647C>G , CM000684.1:g.38509647C>G	GRCh37
NC_000022.9:g.36839593C>G	NCBI36
NG_007094.2:g.97051G>C
NG_033059.2:g.2030G>C
NG_007094.3:g.106139G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.2049G>C MANE Select	ENSP00000333142.3:p.Lys683Asn
ENST00000436218.6:c.*1247G>C	ENSP00000401242.1:n.*1247G>C
ENST00000655142.1:c.*907G>C	ENSP00000499715.1:n.*907G>C
ENST00000660610.1:c.2049G>C	ENSP00000499555.1:p.Lys683Asn
ENST00000663895.1:c.2049G>C	ENSP00000499712.1:p.Lys683Asn
ENST00000664587.1:c.1911G>C	ENSP00000499394.1:p.Lys637Asn
ENST00000665987.1:c.*1788G>C	ENSP00000499423.1:n.*1788G>C
ENST00000667521.1:c.2049G>C	ENSP00000499665.1:p.Lys683Asn
ENST00000668499.1:c.*1908G>C	ENSP00000499626.1:n.*1908G>C
ENST00000668949.1:c.2091G>C	ENSP00000499711.1:p.Lys697Asn
ENST00000671093.1:n.1981G>C
ENST00000673413.1:c.*1718G>C	ENSP00000500600.1:n.*1718G>C
ENST00000332509.7:c.2049G>C	ENSP00000333142.3:p.Lys683Asn
ENST00000335539.7:c.1887G>C	ENSP00000335149.3:p.Lys629Asn
ENST00000402064.5:c.1887G>C	ENSP00000386100.1:p.Lys629Asn
ENST00000496409.1:n.757G>C
NM_001004426.1:c.1887G>C	NP_001004426.1:p.Lys629Asn
NM_001199562.1:c.1887G>C	NP_001186491.1:p.Lys629Asn
NM_003560.2:c.2049G>C	NP_003551.2:p.Lys683Asn
XM_005261764.1:c.2049G>C	XP_005261821.1:p.Lys683Asn
XM_005261765.1:c.2049G>C	XP_005261822.1:p.Lys683Asn
XM_005261766.1:c.2049G>C	XP_005261823.1:p.Lys683Asn
XM_006724332.2:c.2049G>C	XP_006724395.1:p.Lys683Asn
XM_011530422.1:c.1944G>C	XP_011528724.1:p.Lys648Asn
XM_011530423.1:c.1515G>C	XP_011528725.1:p.Lys505Asn
XM_011530424.1:c.1515G>C	XP_011528726.1:p.Lys505Asn
XM_011530425.1:c.1515G>C	XP_011528727.1:p.Lys505Asn
XR_244390.1:n.2325G>C
XR_430411.1:n.2209G>C
XR_937938.1:n.2411G>C
NM_001004426.2:c.1887G>C	NP_001004426.1:p.Lys629Asn
NM_001199562.2:c.1887G>C	NP_001186491.1:p.Lys629Asn
NM_001349864.1:c.2049G>C	NP_001336793.1:p.Lys683Asn
NM_001349865.1:c.1887G>C	NP_001336794.1:p.Lys629Asn
NM_001349866.1:c.1887G>C	NP_001336795.1:p.Lys629Asn
NM_001349867.1:c.1515G>C	NP_001336796.1:p.Lys505Asn
NM_001349868.1:c.1371G>C	NP_001336797.1:p.Lys457Asn
NM_001349869.1:c.1353G>C	NP_001336798.1:p.Lys451Asn
NM_003560.3:c.2049G>C	NP_003551.2:p.Lys683Asn
XM_005261764.3:c.2049G>C	XP_005261821.1:p.Lys683Asn
XM_005261765.2:c.2049G>C	XP_005261822.1:p.Lys683Asn
XM_006724332.4:c.2049G>C	XP_006724395.1:p.Lys683Asn
XM_017028983.1:c.1353G>C	XP_016884472.1:p.Lys451Asn
XM_024452280.1:c.1515G>C	XP_024308048.1:p.Lys505Asn
XM_024452281.1:c.1515G>C	XP_024308049.1:p.Lys505Asn
XM_024452282.1:c.1515G>C	XP_024308050.1:p.Lys505Asn
XM_024452283.1:c.1371G>C	XP_024308051.1:p.Lys457Asn
XM_024452284.1:c.1353G>C	XP_024308052.1:p.Lys451Asn
XM_024452285.1:c.1353G>C	XP_024308053.1:p.Lys451Asn
XR_001755325.2:n.2232G>C
XR_001755327.2:n.2227G>C
XR_001755328.2:n.2193G>C
XR_244390.3:n.2309G>C
XR_937938.3:n.2395G>C
NM_001199562.3:c.1887G>C	NP_001186491.1:p.Lys629Asn
NM_001349864.2:c.2049G>C	NP_001336793.1:p.Lys683Asn
NM_001349865.2:c.1887G>C	NP_001336794.1:p.Lys629Asn
NM_001349866.2:c.1887G>C	NP_001336795.1:p.Lys629Asn
NM_001349867.2:c.1515G>C	NP_001336796.1:p.Lys505Asn
NM_001349868.2:c.1371G>C	NP_001336797.1:p.Lys457Asn
NM_001349869.2:c.1353G>C	NP_001336798.1:p.Lys451Asn
NM_003560.4:c.2049G>C MANE Select	NP_003551.2:p.Lys683Asn
NM_001004426.3:c.1887G>C	NP_001004426.1:p.Lys629Asn