Canonical Allele Identifier: CA406489355
Gene: PRKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46704367G>A , CM000681.2:g.46704367G>A GRCh38
NC_000019.9:g.47207624G>A , CM000681.1:g.47207624G>A GRCh37
NC_000019.8:g.51899464G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291281.9:c.691C>T MANE Select ENSP00000291281.3:p.Pro231Ser
ENST00000291281.8:c.691C>T ENSP00000291281.3:p.Pro231Ser
ENST00000433867.5:c.691C>T ENSP00000393978.1:p.Pro231Ser
ENST00000595515.5:c.691C>T ENSP00000470804.1:p.Pro231Ser
ENST00000597641.1:c.426C>T ENSP00000469064.1:n.426C>T
ENST00000600194.5:c.220C>T ENSP00000472744.1:p.Pro74Ser
ENST00000601605.5:c.41-3255C>T ENSP00000470442.1:n.41-3255C>T
ENST00000601806.5:c.220C>T ENSP00000469106.1:p.Pro74Ser
NM_001079880.1:c.691C>T NP_001073349.1:p.Pro231Ser
NM_001079881.1:c.691C>T NP_001073350.1:p.Pro231Ser
NM_001079882.1:c.220C>T NP_001073351.1:p.Pro74Ser
NM_016457.4:c.691C>T NP_057541.2:p.Pro231Ser
XM_005258716.2:c.220C>T XP_005258773.2:p.Pro74Ser
NM_001079880.2:c.691C>T NP_001073349.1:p.Pro231Ser
NM_001079881.2:c.691C>T NP_001073350.1:p.Pro231Ser
NM_001079882.2:c.220C>T NP_001073351.1:p.Pro74Ser
NM_016457.5:c.691C>T MANE Select NP_057541.2:p.Pro231Ser