Canonical Allele Identifier: CA658062

Gene: PLA2G2A

Linked Data

• dbSNP Id: rs748650954
• ExAC: 1:20305011 AG / A
• gnomAD v2: 1-20305011-AG-A
• gnomAD v3: 1-19978518-AG-A
• gnomAD v4: 1-19978518-AG-A
• MyVariant Identifiers: chr1:g.20305012del (hg19) ; chr1:g.19978519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19978519del , CM000663.2:g.19978519del	GRCh38
NC_000001.10:g.20305012del , CM000663.1:g.20305012del	GRCh37
NC_000001.9:g.20177599del	NCBI36
NG_012928.1:g.6921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482011.3:c.46del MANE Select	ENSP00000504762.1:p.Leu16CysfsTer8
ENST00000400520.8:c.46del	ENSP00000383364.3:p.Leu16CysfsTer8
ENST00000482011.2:c.46del	ENSP00000504762.1:p.Leu16CysfsTer8
ENST00000649436.1:c.-1-35del	ENSP00000496912.1:n.-1-35del
ENST00000375111.7:c.46del	ENSP00000364252.3:p.Leu16CysfsTer8
ENST00000400520.7:c.46del	ENSP00000383364.3:p.Leu16CysfsTer8
ENST00000461140.1:n.335-35del
ENST00000469162.5:n.212del
ENST00000482011.1:n.318del
ENST00000491964.5:n.278del
ENST00000496748.1:n.396del
NM_000300.3:c.46del	NP_000291.1:p.Leu16CysfsTer8
NM_001161727.1:c.46del	NP_001155199.1:p.Leu16CysfsTer8
NM_001161728.1:c.46del	NP_001155200.1:p.Leu16CysfsTer8
NM_001161729.1:c.46del	NP_001155201.1:p.Leu16CysfsTer8
NM_000300.4:c.46del	NP_000291.1:p.Leu16CysfsTer8
NM_001161727.2:c.46del	NP_001155199.1:p.Leu16CysfsTer8
NM_001161728.2:c.46del	NP_001155200.1:p.Leu16CysfsTer8
NM_001395463.1:c.46del MANE Select	NP_001382392.1:p.Leu16CysfsTer8