Canonical Allele Identifier: CA10230571

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 2917364
• ClinVar RCV Id: RCV003615759
• dbSNP Id: rs548439730
• ExAC: 22:38508570 G / A
• gnomAD v2: 22-38508570-G-A
• gnomAD v3: 22-38112563-G-A
• gnomAD v4: 22-38112563-G-A
• MyVariant Identifiers: chr22:g.38508570G>A (hg19) ; chr22:g.38112563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38112563G>A , CM000684.2:g.38112563G>A	GRCh38
NC_000022.10:g.38508570G>A , CM000684.1:g.38508570G>A	GRCh37
NC_000022.9:g.36838516G>A	NCBI36
NG_007094.2:g.98128C>T
NG_033059.2:g.3107C>T
NG_007094.3:g.107216C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.2217C>T MANE Select	ENSP00000333142.3:p.Asp739=
ENST00000436218.6:c.*1415C>T	ENSP00000401242.1:n.*1415C>T
ENST00000655142.1:c.*1075C>T	ENSP00000499715.1:n.*1075C>T
ENST00000660610.1:c.2217C>T	ENSP00000499555.1:p.Asp739=
ENST00000663895.1:c.2217C>T	ENSP00000499712.1:p.Asp739=
ENST00000664587.1:c.2079C>T	ENSP00000499394.1:p.Asp693=
ENST00000665987.1:c.*1956C>T	ENSP00000499423.1:n.*1956C>T
ENST00000667521.1:c.2217C>T	ENSP00000499665.1:p.Asp739=
ENST00000668499.1:c.*2076C>T	ENSP00000499626.1:n.*2076C>T
ENST00000668949.1:c.2259C>T	ENSP00000499711.1:p.Asp753=
ENST00000671093.1:n.2149C>T
ENST00000673413.1:c.*1886C>T	ENSP00000500600.1:n.*1886C>T
ENST00000332509.7:c.2217C>T	ENSP00000333142.3:p.Asp739=
ENST00000335539.7:c.2055C>T	ENSP00000335149.3:p.Asp685=
ENST00000402064.5:c.2055C>T	ENSP00000386100.1:p.Asp685=
ENST00000463287.1:n.293C>T
NM_001004426.1:c.2055C>T	NP_001004426.1:p.Asp685=
NM_001199562.1:c.2055C>T	NP_001186491.1:p.Asp685=
NM_003560.2:c.2217C>T	NP_003551.2:p.Asp739=
XM_005261764.1:c.2217C>T	XP_005261821.1:p.Asp739=
XM_005261765.1:c.2217C>T	XP_005261822.1:p.Asp739=
XM_005261766.1:c.2217C>T	XP_005261823.1:p.Asp739=
XM_006724332.2:c.2217C>T	XP_006724395.1:p.Asp739=
XM_011530422.1:c.2112C>T	XP_011528724.1:p.Asp704=
XM_011530423.1:c.1683C>T	XP_011528725.1:p.Asp561=
XM_011530424.1:c.1683C>T	XP_011528726.1:p.Asp561=
XM_011530425.1:c.1683C>T	XP_011528727.1:p.Asp561=
NM_001004426.2:c.2055C>T	NP_001004426.1:p.Asp685=
NM_001199562.2:c.2055C>T	NP_001186491.1:p.Asp685=
NM_001349864.1:c.2217C>T	NP_001336793.1:p.Asp739=
NM_001349865.1:c.2055C>T	NP_001336794.1:p.Asp685=
NM_001349866.1:c.2055C>T	NP_001336795.1:p.Asp685=
NM_001349867.1:c.1683C>T	NP_001336796.1:p.Asp561=
NM_001349868.1:c.1539C>T	NP_001336797.1:p.Asp513=
NM_001349869.1:c.1521C>T	NP_001336798.1:p.Asp507=
NM_003560.3:c.2217C>T	NP_003551.2:p.Asp739=
XM_005261764.3:c.2217C>T	XP_005261821.1:p.Asp739=
XM_005261765.2:c.2217C>T	XP_005261822.1:p.Asp739=
XM_006724332.4:c.2217C>T	XP_006724395.1:p.Asp739=
XM_017028983.1:c.1521C>T	XP_016884472.1:p.Asp507=
XM_024452280.1:c.1683C>T	XP_024308048.1:p.Asp561=
XM_024452281.1:c.1683C>T	XP_024308049.1:p.Asp561=
XM_024452282.1:c.1683C>T	XP_024308050.1:p.Asp561=
XM_024452283.1:c.1539C>T	XP_024308051.1:p.Asp513=
XM_024452284.1:c.1521C>T	XP_024308052.1:p.Asp507=
XM_024452285.1:c.1521C>T	XP_024308053.1:p.Asp507=
XR_001755325.2:n.2400C>T
XR_001755327.2:n.2395C>T
XR_001755328.2:n.2361C>T
NM_001199562.3:c.2055C>T	NP_001186491.1:p.Asp685=
NM_001349864.2:c.2217C>T	NP_001336793.1:p.Asp739=
NM_001349865.2:c.2055C>T	NP_001336794.1:p.Asp685=
NM_001349866.2:c.2055C>T	NP_001336795.1:p.Asp685=
NM_001349867.2:c.1683C>T	NP_001336796.1:p.Asp561=
NM_001349868.2:c.1539C>T	NP_001336797.1:p.Asp513=
NM_001349869.2:c.1521C>T	NP_001336798.1:p.Asp507=
NM_003560.4:c.2217C>T MANE Select	NP_003551.2:p.Asp739=
NM_001004426.3:c.2055C>T	NP_001004426.1:p.Asp685=