Canonical Allele Identifier: CA8311428

Gene: PLD2

Linked Data

• dbSNP Id: rs757519454
• ExAC: 17:4714125 C / T
• gnomAD v2: 17-4714125-C-T
• gnomAD v3: 17-4810830-C-T
• gnomAD v4: 17-4810830-C-T
• MyVariant Identifiers: chr17:g.4714125C>T (hg19) ; chr17:g.4810830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4810830C>T , CM000679.2:g.4810830C>T	GRCh38
NC_000017.10:g.4714125C>T , CM000679.1:g.4714125C>T	GRCh37
NC_000017.9:g.4661093C>T	NCBI36
NG_029608.1:g.8730C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263088.11:c.889C>T MANE Select	ENSP00000263088.5:p.Arg297Trp
ENST00000263088.10:c.889C>T	ENSP00000263088.5:p.Arg297Trp
ENST00000572940.5:c.889C>T	ENSP00000459571.1:p.Arg297Trp
ENST00000575246.6:c.*537C>T	ENSP00000459304.1:n.*537C>T
ENST00000575813.5:c.24C>T
NM_001243108.1:c.889C>T	NP_001230037.1:p.Arg297Trp
NM_002663.4:c.889C>T	NP_002654.3:p.Arg297Trp
XM_005256695.2:c.889C>T	XP_005256752.1:p.Arg297Trp
XM_005256696.2:c.-318C>T	XP_005256753.1:n.-318C>T
XM_011523941.1:c.889C>T	XP_011522243.1:p.Arg297Trp
XM_011523942.1:c.889C>T	XP_011522244.1:p.Arg297Trp
XM_017024764.2:c.-318C>T	XP_016880253.1:n.-318C>T
XR_001752533.2:n.951C>T
XR_001752534.2:n.951C>T
XR_001752535.2:n.951C>T
XR_001752536.2:n.951C>T
XR_001752537.2:n.951C>T
XR_002958023.1:n.951C>T
XR_002958024.1:n.951C>T
NM_002663.5:c.889C>T MANE Select	NP_002654.3:p.Arg297Trp
NM_001243108.2:c.889C>T	NP_001230037.1:p.Arg297Trp