Canonical Allele Identifier: CA8311431

Gene: PLD2

Linked Data

• dbSNP Id: rs768427224
• ExAC: 17:4714133 A / G
• gnomAD v2: 17-4714133-A-G
• gnomAD v3: 17-4810838-A-G
• gnomAD v4: 17-4810838-A-G
• MyVariant Identifiers: chr17:g.4714133A>G (hg19) ; chr17:g.4810838A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4810838A>G , CM000679.2:g.4810838A>G	GRCh38
NC_000017.10:g.4714133A>G , CM000679.1:g.4714133A>G	GRCh37
NC_000017.9:g.4661101A>G	NCBI36
NG_029608.1:g.8738A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263088.11:c.897A>G MANE Select	ENSP00000263088.5:p.Ala299=
ENST00000263088.10:c.897A>G	ENSP00000263088.5:p.Ala299=
ENST00000572940.5:c.897A>G	ENSP00000459571.1:p.Ala299=
ENST00000575246.6:c.*545A>G	ENSP00000459304.1:n.*545A>G
ENST00000575813.5:c.32A>G
NM_001243108.1:c.897A>G	NP_001230037.1:p.Ala299=
NM_002663.4:c.897A>G	NP_002654.3:p.Ala299=
XM_005256695.2:c.897A>G	XP_005256752.1:p.Ala299=
XM_005256696.2:c.-310A>G	XP_005256753.1:n.-310A>G
XM_011523941.1:c.897A>G	XP_011522243.1:p.Ala299=
XM_011523942.1:c.897A>G	XP_011522244.1:p.Ala299=
XM_017024764.2:c.-310A>G	XP_016880253.1:n.-310A>G
XR_001752533.2:n.959A>G
XR_001752534.2:n.959A>G
XR_001752535.2:n.959A>G
XR_001752536.2:n.959A>G
XR_001752537.2:n.959A>G
XR_002958023.1:n.959A>G
XR_002958024.1:n.959A>G
NM_002663.5:c.897A>G MANE Select	NP_002654.3:p.Ala299=
NM_001243108.2:c.897A>G	NP_001230037.1:p.Ala299=