Canonical Allele Identifier: CA406489146

Gene: PRKD2

Linked Data

• gnomAD v4: 19-46704301-G-C
• MyVariant Identifiers: chr19:g.47207558G>C (hg19) ; chr19:g.46704301G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704301G>C , CM000681.2:g.46704301G>C	GRCh38
NC_000019.9:g.47207558G>C , CM000681.1:g.47207558G>C	GRCh37
NC_000019.8:g.51899398G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000291281.9:c.757C>G MANE Select	ENSP00000291281.3:p.Leu253Val
ENST00000291281.8:c.757C>G	ENSP00000291281.3:p.Leu253Val
ENST00000433867.5:c.757C>G	ENSP00000393978.1:p.Leu253Val
ENST00000595515.5:c.757C>G	ENSP00000470804.1:p.Leu253Val
ENST00000600194.5:c.286C>G	ENSP00000472744.1:p.Leu96Val
ENST00000601605.5:c.41-3189C>G	ENSP00000470442.1:n.41-3189C>G
ENST00000601806.5:c.286C>G	ENSP00000469106.1:p.Leu96Val
NM_001079880.1:c.757C>G	NP_001073349.1:p.Leu253Val
NM_001079881.1:c.757C>G	NP_001073350.1:p.Leu253Val
NM_001079882.1:c.286C>G	NP_001073351.1:p.Leu96Val
NM_016457.4:c.757C>G	NP_057541.2:p.Leu253Val
XM_005258716.2:c.286C>G	XP_005258773.2:p.Leu96Val
NM_001079880.2:c.757C>G	NP_001073349.1:p.Leu253Val
NM_001079881.2:c.757C>G	NP_001073350.1:p.Leu253Val
NM_001079882.2:c.286C>G	NP_001073351.1:p.Leu96Val
NM_016457.5:c.757C>G MANE Select	NP_057541.2:p.Leu253Val