Canonical Allele Identifier: CA996424026

Gene: PRKD2

Linked Data

• dbSNP Id: rs2053681359
• gnomAD v3: 19-46704399-T-C
• gnomAD v4: 19-46704399-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704399T>C , CM000681.2:g.46704399T>C	GRCh38
NC_000019.9:g.47207656T>C , CM000681.1:g.47207656T>C	GRCh37
NC_000019.8:g.51899496T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000291281.9:c.667-8A>G MANE Select	ENSP00000291281.3:n.667-8A>G
ENST00000291281.8:c.667-8A>G	ENSP00000291281.3:n.667-8A>G
ENST00000433867.5:c.667-8A>G	ENSP00000393978.1:n.667-8A>G
ENST00000595515.5:c.667-8A>G	ENSP00000470804.1:n.667-8A>G
ENST00000597641.1:c.402-8A>G	ENSP00000469064.1:n.402-8A>G
ENST00000600194.5:c.196-8A>G	ENSP00000472744.1:n.196-8A>G
ENST00000601605.5:c.41-3287A>G	ENSP00000470442.1:n.41-3287A>G
ENST00000601806.5:c.196-8A>G	ENSP00000469106.1:n.196-8A>G
NM_001079880.1:c.667-8A>G	NP_001073349.1:n.667-8A>G
NM_001079881.1:c.667-8A>G	NP_001073350.1:n.667-8A>G
NM_001079882.1:c.196-8A>G	NP_001073351.1:n.196-8A>G
NM_016457.4:c.667-8A>G	NP_057541.2:n.667-8A>G
XM_005258716.2:c.196-8A>G	XP_005258773.2:n.196-8A>G
NM_001079880.2:c.667-8A>G	NP_001073349.1:n.667-8A>G
NM_001079881.2:c.667-8A>G	NP_001073350.1:n.667-8A>G
NM_001079882.2:c.196-8A>G	NP_001073351.1:n.196-8A>G
NM_016457.5:c.667-8A>G MANE Select	NP_057541.2:n.667-8A>G