Canonical Allele Identifier: CA507974802
Gene: PRKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.47207469C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46704212C>T , CM000681.2:g.46704212C>T GRCh38
NC_000019.9:g.47207469C>T , CM000681.1:g.47207469C>T GRCh37
NC_000019.8:g.51899309C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291281.9:c.846G>A MANE Select ENSP00000291281.3:p.Lys282=
ENST00000291281.8:c.846G>A ENSP00000291281.3:p.Lys282=
ENST00000433867.5:c.846G>A ENSP00000393978.1:p.Lys282=
ENST00000595515.5:c.846G>A ENSP00000470804.1:p.Lys282=
ENST00000600194.5:c.375G>A ENSP00000472744.1:p.Lys125=
ENST00000601605.5:c.41-3100G>A ENSP00000470442.1:n.41-3100G>A
ENST00000601806.5:c.375G>A ENSP00000469106.1:p.Lys125=
NM_001079880.1:c.846G>A NP_001073349.1:p.Lys282=
NM_001079881.1:c.846G>A NP_001073350.1:p.Lys282=
NM_001079882.1:c.375G>A NP_001073351.1:p.Lys125=
NM_016457.4:c.846G>A NP_057541.2:p.Lys282=
XM_005258716.2:c.375G>A XP_005258773.2:p.Lys125=
NM_001079880.2:c.846G>A NP_001073349.1:p.Lys282=
NM_001079881.2:c.846G>A NP_001073350.1:p.Lys282=
NM_001079882.2:c.375G>A NP_001073351.1:p.Lys125=
NM_016457.5:c.846G>A MANE Select NP_057541.2:p.Lys282=