Canonical Allele Identifier: CA406490175

Gene: PRKD2

Linked Data

• ClinVar Variation Id: 3218833
• ClinVar RCV Id: RCV004515208
• gnomAD v4: 19-46704644-C-T
• MyVariant Identifiers: chr19:g.47207901C>T (hg19) ; chr19:g.46704644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704644C>T , CM000681.2:g.46704644C>T	GRCh38
NC_000019.9:g.47207901C>T , CM000681.1:g.47207901C>T	GRCh37
NC_000019.8:g.51899741C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.517G>A MANE Select	ENSP00000291281.3:p.Gly173Arg
ENST00000291281.8:c.517G>A	ENSP00000291281.3:p.Gly173Arg
ENST00000433867.5:c.517G>A	ENSP00000393978.1:p.Gly173Arg
ENST00000595132.5:c.46G>A	ENSP00000470363.1:p.Gly16Arg
ENST00000595515.5:c.517G>A	ENSP00000470804.1:p.Gly173Arg
ENST00000597641.1:c.252G>A	ENSP00000469064.1:n.252G>A
ENST00000598633.1:c.46G>A	ENSP00000470919.1:p.Gly16Arg
ENST00000600194.5:c.46G>A	ENSP00000472744.1:p.Gly16Arg
ENST00000601605.5:c.41-3532G>A	ENSP00000470442.1:n.41-3532G>A
ENST00000601806.5:c.46G>A	ENSP00000469106.1:p.Gly16Arg
NM_001079880.1:c.517G>A	NP_001073349.1:p.Gly173Arg
NM_001079881.1:c.517G>A	NP_001073350.1:p.Gly173Arg
NM_001079882.1:c.46G>A	NP_001073351.1:p.Gly16Arg
NM_016457.4:c.517G>A	NP_057541.2:p.Gly173Arg
XM_005258716.2:c.46G>A	XP_005258773.2:p.Gly16Arg
NM_001079880.2:c.517G>A	NP_001073349.1:p.Gly173Arg
NM_001079881.2:c.517G>A	NP_001073350.1:p.Gly173Arg
NM_001079882.2:c.46G>A	NP_001073351.1:p.Gly16Arg
NM_016457.5:c.517G>A MANE Select	NP_057541.2:p.Gly173Arg