Canonical Allele Identifier: CA9531071
Gene: PRKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1242551
ClinVar RCV Id: RCV001641355
dbSNP Id: rs11083846

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46704397G>A , CM000681.2:g.46704397G>A GRCh38
NC_000019.9:g.47207654G>A , CM000681.1:g.47207654G>A GRCh37
NC_000019.8:g.51899494G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000291281.9:c.667-6C>T MANE Select ENSP00000291281.3:n.667-6C>T
ENST00000291281.8:c.667-6C>T ENSP00000291281.3:n.667-6C>T
ENST00000433867.5:c.667-6C>T ENSP00000393978.1:n.667-6C>T
ENST00000595515.5:c.667-6C>T ENSP00000470804.1:n.667-6C>T
ENST00000597641.1:c.402-6C>T ENSP00000469064.1:n.402-6C>T
ENST00000600194.5:c.196-6C>T ENSP00000472744.1:n.196-6C>T
ENST00000601605.5:c.41-3285C>T ENSP00000470442.1:n.41-3285C>T
ENST00000601806.5:c.196-6C>T ENSP00000469106.1:n.196-6C>T
NM_001079880.1:c.667-6C>T NP_001073349.1:n.667-6C>T
NM_001079881.1:c.667-6C>T NP_001073350.1:n.667-6C>T
NM_001079882.1:c.196-6C>T NP_001073351.1:n.196-6C>T
NM_016457.4:c.667-6C>T NP_057541.2:n.667-6C>T
XM_005258716.2:c.196-6C>T XP_005258773.2:n.196-6C>T
NM_001079880.2:c.667-6C>T NP_001073349.1:n.667-6C>T
NM_001079881.2:c.667-6C>T NP_001073350.1:n.667-6C>T
NM_001079882.2:c.196-6C>T NP_001073351.1:n.196-6C>T
NM_016457.5:c.667-6C>T MANE Select NP_057541.2:n.667-6C>T