Canonical Allele Identifier: CA9531062

Gene: PRKD2

Linked Data

• dbSNP Id: rs769193163
• ExAC: 19:47207630 G / A
• gnomAD v2: 19-47207630-G-A
• gnomAD v4: 19-46704373-G-A
• MyVariant Identifiers: chr19:g.47207630G>A (hg19) ; chr19:g.46704373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704373G>A , CM000681.2:g.46704373G>A	GRCh38
NC_000019.9:g.47207630G>A , CM000681.1:g.47207630G>A	GRCh37
NC_000019.8:g.51899470G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.685C>T MANE Select	ENSP00000291281.3:p.Leu229Phe
ENST00000291281.8:c.685C>T	ENSP00000291281.3:p.Leu229Phe
ENST00000433867.5:c.685C>T	ENSP00000393978.1:p.Leu229Phe
ENST00000595515.5:c.685C>T	ENSP00000470804.1:p.Leu229Phe
ENST00000597641.1:c.420C>T	ENSP00000469064.1:n.420C>T
ENST00000600194.5:c.214C>T	ENSP00000472744.1:p.Leu72Phe
ENST00000601605.5:c.41-3261C>T	ENSP00000470442.1:n.41-3261C>T
ENST00000601806.5:c.214C>T	ENSP00000469106.1:p.Leu72Phe
NM_001079880.1:c.685C>T	NP_001073349.1:p.Leu229Phe
NM_001079881.1:c.685C>T	NP_001073350.1:p.Leu229Phe
NM_001079882.1:c.214C>T	NP_001073351.1:p.Leu72Phe
NM_016457.4:c.685C>T	NP_057541.2:p.Leu229Phe
XM_005258716.2:c.214C>T	XP_005258773.2:p.Leu72Phe
NM_001079880.2:c.685C>T	NP_001073349.1:p.Leu229Phe
NM_001079881.2:c.685C>T	NP_001073350.1:p.Leu229Phe
NM_001079882.2:c.214C>T	NP_001073351.1:p.Leu72Phe
NM_016457.5:c.685C>T MANE Select	NP_057541.2:p.Leu229Phe