Canonical Allele Identifier: CA3840301

Gene: PLA2G7

Linked Data

• ClinVar Variation Id: 488191
• ClinVar RCV Id: RCV000578126 ; RCV002265809
• dbSNP Id: rs201899866
• ExAC: 6:46679232 C / T
• gnomAD v2: 6-46679232-C-T
• gnomAD v3: 6-46711495-C-T
• gnomAD v4: 6-46711495-C-T
• MyVariant Identifiers: chr6:g.46679232C>T (hg19) ; chr6:g.46711495C>T (hg38)
• PubMed: PMID:28406212

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.46711495C>T , CM000668.2:g.46711495C>T	GRCh38
NC_000006.11:g.46679232C>T , CM000668.1:g.46679232C>T	GRCh37
NC_000006.10:g.46787191C>T	NCBI36
NG_016204.1:g.29199G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274793.12:c.663+1G>A MANE Select	ENSP00000274793.7:n.663+1G>A
ENST00000274793.11:c.663+1G>A	ENSP00000274793.7:n.663+1G>A
ENST00000537365.1:c.663+1G>A	ENSP00000445666.1:n.663+1G>A
NM_001168357.1:c.663+1G>A	NP_001161829.1:n.663+1G>A
NM_005084.3:c.663+1G>A	NP_005075.3:n.663+1G>A
XM_005249408.3:c.663+1G>A	XP_005249465.1:n.663+1G>A
XM_005249409.2:c.663+1G>A	XP_005249466.1:n.663+1G>A
XM_005249408.4:c.663+1G>A	XP_005249465.1:n.663+1G>A
XR_001743639.2:n.909+1G>A
XR_002956305.1:n.708+1G>A
NM_005084.4:c.663+1G>A MANE Select	NP_005075.3:n.663+1G>A
NM_001168357.2:c.663+1G>A	NP_001161829.1:n.663+1G>A