Canonical Allele Identifier: CA514544297
Gene: PLA2G6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.38512092A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38116085A>C , CM000684.2:g.38116085A>C GRCh38
NC_000022.10:g.38512092A>C , CM000684.1:g.38512092A>C GRCh37
NC_000022.9:g.36842038A>C NCBI36
NG_007094.2:g.94606T>G
NG_007094.3:g.103694T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000332509.8:c.1869T>G MANE Select ENSP00000333142.3:p.Ala623=
ENST00000427114.6:c.1173T>G ENSP00000407743.2:p.Ala391=
ENST00000436218.6:c.*1067T>G ENSP00000401242.1:n.*1067T>G
ENST00000655142.1:c.*727T>G ENSP00000499715.1:n.*727T>G
ENST00000660610.1:c.1869T>G ENSP00000499555.1:p.Ala623=
ENST00000663895.1:c.1869T>G ENSP00000499712.1:p.Ala623=
ENST00000664587.1:c.1731T>G ENSP00000499394.1:p.Ala577=
ENST00000665987.1:c.*1608T>G ENSP00000499423.1:n.*1608T>G
ENST00000667521.1:c.1869T>G ENSP00000499665.1:p.Ala623=
ENST00000668499.1:c.*1591T>G ENSP00000499626.1:n.*1591T>G
ENST00000668949.1:c.1707T>G ENSP00000499711.1:p.Ala569=
ENST00000671093.1:n.1801T>G
ENST00000673413.1:c.*1538T>G ENSP00000500600.1:n.*1538T>G
ENST00000332509.7:c.1869T>G ENSP00000333142.3:p.Ala623=
ENST00000335539.7:c.1707T>G ENSP00000335149.3:p.Ala569=
ENST00000402064.5:c.1707T>G ENSP00000386100.1:p.Ala569=
ENST00000454670.1:c.605T>G
ENST00000496409.1:n.409T>G
NM_001004426.1:c.1707T>G NP_001004426.1:p.Ala569=
NM_001199562.1:c.1707T>G NP_001186491.1:p.Ala569=
NM_003560.2:c.1869T>G NP_003551.2:p.Ala623=
XM_005261764.1:c.1869T>G XP_005261821.1:p.Ala623=
XM_005261765.1:c.1869T>G XP_005261822.1:p.Ala623=
XM_005261766.1:c.1869T>G XP_005261823.1:p.Ala623=
XM_006724332.2:c.1869T>G XP_006724395.1:p.Ala623=
XM_011530422.1:c.1764T>G XP_011528724.1:p.Ala588=
XM_011530423.1:c.1335T>G XP_011528725.1:p.Ala445=
XM_011530424.1:c.1335T>G XP_011528726.1:p.Ala445=
XM_011530425.1:c.1335T>G XP_011528727.1:p.Ala445=
XR_244390.1:n.1977T>G
XR_430411.1:n.2029T>G
XR_937937.1:n.2068T>G
XR_937938.1:n.2063T>G
XR_937939.1:n.2120T>G
NM_001004426.2:c.1707T>G NP_001004426.1:p.Ala569=
NM_001199562.2:c.1707T>G NP_001186491.1:p.Ala569=
NM_001349864.1:c.1869T>G NP_001336793.1:p.Ala623=
NM_001349865.1:c.1707T>G NP_001336794.1:p.Ala569=
NM_001349866.1:c.1707T>G NP_001336795.1:p.Ala569=
NM_001349867.1:c.1335T>G NP_001336796.1:p.Ala445=
NM_001349868.1:c.1191T>G NP_001336797.1:p.Ala397=
NM_001349869.1:c.1173T>G NP_001336798.1:p.Ala391=
NM_003560.3:c.1869T>G NP_003551.2:p.Ala623=
XM_005261764.3:c.1869T>G XP_005261821.1:p.Ala623=
XM_005261765.2:c.1869T>G XP_005261822.1:p.Ala623=
XM_006724332.4:c.1869T>G XP_006724395.1:p.Ala623=
XM_017028983.1:c.1173T>G XP_016884472.1:p.Ala391=
XM_024452280.1:c.1335T>G XP_024308048.1:p.Ala445=
XM_024452281.1:c.1335T>G XP_024308049.1:p.Ala445=
XM_024452282.1:c.1335T>G XP_024308050.1:p.Ala445=
XM_024452283.1:c.1191T>G XP_024308051.1:p.Ala397=
XM_024452284.1:c.1173T>G XP_024308052.1:p.Ala391=
XM_024452285.1:c.1173T>G XP_024308053.1:p.Ala391=
XR_001755325.2:n.2052T>G
XR_001755327.2:n.2047T>G
XR_001755328.2:n.2013T>G
XR_244390.3:n.1961T>G
XR_937938.3:n.2047T>G
XR_937939.3:n.2104T>G
NM_001199562.3:c.1707T>G NP_001186491.1:p.Ala569=
NM_001349864.2:c.1869T>G NP_001336793.1:p.Ala623=
NM_001349865.2:c.1707T>G NP_001336794.1:p.Ala569=
NM_001349866.2:c.1707T>G NP_001336795.1:p.Ala569=
NM_001349867.2:c.1335T>G NP_001336796.1:p.Ala445=
NM_001349868.2:c.1191T>G NP_001336797.1:p.Ala397=
NM_001349869.2:c.1173T>G NP_001336798.1:p.Ala391=
NM_003560.4:c.1869T>G MANE Select NP_003551.2:p.Ala623=
NM_001004426.3:c.1707T>G NP_001004426.1:p.Ala569=