Canonical Allele Identifier: CA658061

Gene: PLA2G2A

Linked Data

• ClinVar Variation Id: 3055524
• ClinVar RCV Id: RCV003981346
• dbSNP Id: rs779631054
• ExAC: 1:20305006 C / T
• gnomAD v2: 1-20305006-C-T
• gnomAD v3: 1-19978513-C-T
• gnomAD v4: 1-19978513-C-T
• MyVariant Identifiers: chr1:g.20305006C>T (hg19) ; chr1:g.19978513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19978513C>T , CM000663.2:g.19978513C>T	GRCh38
NC_000001.10:g.20305006C>T , CM000663.1:g.20305006C>T	GRCh37
NC_000001.9:g.20177593C>T	NCBI36
NG_012928.1:g.6927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482011.3:c.52G>A MANE Select	ENSP00000504762.1:p.Ala18Thr
ENST00000400520.8:c.52G>A	ENSP00000383364.3:p.Ala18Thr
ENST00000482011.2:c.52G>A	ENSP00000504762.1:p.Ala18Thr
ENST00000649436.1:c.-1-29G>A	ENSP00000496912.1:n.-1-29G>A
ENST00000375111.7:c.52G>A	ENSP00000364252.3:p.Ala18Thr
ENST00000400520.7:c.52G>A	ENSP00000383364.3:p.Ala18Thr
ENST00000461140.1:n.335-29G>A
ENST00000469162.5:n.218G>A
ENST00000482011.1:n.324G>A
ENST00000491964.5:n.284G>A
ENST00000496748.1:n.402G>A
NM_000300.3:c.52G>A	NP_000291.1:p.Ala18Thr
NM_001161727.1:c.52G>A	NP_001155199.1:p.Ala18Thr
NM_001161728.1:c.52G>A	NP_001155200.1:p.Ala18Thr
NM_001161729.1:c.52G>A	NP_001155201.1:p.Ala18Thr
NM_000300.4:c.52G>A	NP_000291.1:p.Ala18Thr
NM_001161727.2:c.52G>A	NP_001155199.1:p.Ala18Thr
NM_001161728.2:c.52G>A	NP_001155200.1:p.Ala18Thr
NM_001395463.1:c.52G>A MANE Select	NP_001382392.1:p.Ala18Thr