Canonical Allele Identifier: CA2339041934

Gene: PRKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704370G= , CM000681.2:g.46704370G=	GRCh38
NC_000019.9:g.47207627G= , CM000681.1:g.47207627G=	GRCh37
NC_000019.8:g.51899467G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.688C= MANE Select	ENSP00000291281.3:p.Leu230=
ENST00000291281.8:c.688C=	ENSP00000291281.3:p.Leu230=
ENST00000433867.5:c.688C=	ENSP00000393978.1:p.Leu230=
ENST00000595515.5:c.688C=	ENSP00000470804.1:p.Leu230=
ENST00000597641.1:c.423C=	ENSP00000469064.1:n.423C=
ENST00000600194.5:c.217C=	ENSP00000472744.1:p.Leu73=
ENST00000601605.5:c.41-3258C=	ENSP00000470442.1:n.41-3258C=
ENST00000601806.5:c.217C=	ENSP00000469106.1:p.Leu73=
NM_001079880.1:c.688C=	NP_001073349.1:p.Leu230=
NM_001079881.1:c.688C=	NP_001073350.1:p.Leu230=
NM_001079882.1:c.217C=	NP_001073351.1:p.Leu73=
NM_016457.4:c.688C=	NP_057541.2:p.Leu230=
XM_005258716.2:c.217C=	XP_005258773.2:p.Leu73=
NM_001079880.2:c.688C=	NP_001073349.1:p.Leu230=
NM_001079881.2:c.688C=	NP_001073350.1:p.Leu230=
NM_001079882.2:c.217C=	NP_001073351.1:p.Leu73=
NM_016457.5:c.688C= MANE Select	NP_057541.2:p.Leu230=