Canonical Allele Identifier: CA406489346
Gene: PRKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1416947929

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46704364G>A , CM000681.2:g.46704364G>A GRCh38
NC_000019.9:g.47207621G>A , CM000681.1:g.47207621G>A GRCh37
NC_000019.8:g.51899461G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291281.9:c.694C>T MANE Select ENSP00000291281.3:p.Arg232Cys
ENST00000291281.8:c.694C>T ENSP00000291281.3:p.Arg232Cys
ENST00000433867.5:c.694C>T ENSP00000393978.1:p.Arg232Cys
ENST00000595515.5:c.694C>T ENSP00000470804.1:p.Arg232Cys
ENST00000597641.1:c.429C>T ENSP00000469064.1:n.429C>T
ENST00000600194.5:c.223C>T ENSP00000472744.1:p.Arg75Cys
ENST00000601605.5:c.41-3252C>T ENSP00000470442.1:n.41-3252C>T
ENST00000601806.5:c.223C>T ENSP00000469106.1:p.Arg75Cys
NM_001079880.1:c.694C>T NP_001073349.1:p.Arg232Cys
NM_001079881.1:c.694C>T NP_001073350.1:p.Arg232Cys
NM_001079882.1:c.223C>T NP_001073351.1:p.Arg75Cys
NM_016457.4:c.694C>T NP_057541.2:p.Arg232Cys
XM_005258716.2:c.223C>T XP_005258773.2:p.Arg75Cys
NM_001079880.2:c.694C>T NP_001073349.1:p.Arg232Cys
NM_001079881.2:c.694C>T NP_001073350.1:p.Arg232Cys
NM_001079882.2:c.223C>T NP_001073351.1:p.Arg75Cys
NM_016457.5:c.694C>T MANE Select NP_057541.2:p.Arg232Cys