Canonical Allele Identifier: CA2339041872
Gene: PRKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46704208G= , CM000681.2:g.46704208G= GRCh38
NC_000019.9:g.47207465G= , CM000681.1:g.47207465G= GRCh37
NC_000019.8:g.51899305G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291281.9:c.850C= MANE Select ENSP00000291281.3:p.Leu284=
ENST00000291281.8:c.850C= ENSP00000291281.3:p.Leu284=
ENST00000433867.5:c.850C= ENSP00000393978.1:p.Leu284=
ENST00000595515.5:c.850C= ENSP00000470804.1:p.Leu284=
ENST00000600194.5:c.379C= ENSP00000472744.1:p.Leu127=
ENST00000601605.5:c.41-3096C= ENSP00000470442.1:n.41-3096C=
ENST00000601806.5:c.379C= ENSP00000469106.1:p.Leu127=
NM_001079880.1:c.850C= NP_001073349.1:p.Leu284=
NM_001079881.1:c.850C= NP_001073350.1:p.Leu284=
NM_001079882.1:c.379C= NP_001073351.1:p.Leu127=
NM_016457.4:c.850C= NP_057541.2:p.Leu284=
XM_005258716.2:c.379C= XP_005258773.2:p.Leu127=
NM_001079880.2:c.850C= NP_001073349.1:p.Leu284=
NM_001079881.2:c.850C= NP_001073350.1:p.Leu284=
NM_001079882.2:c.379C= NP_001073351.1:p.Leu127=
NM_016457.5:c.850C= MANE Select NP_057541.2:p.Leu284=