Canonical Allele Identifier: CA2339041912

Gene: PRKD2

Linked Data

• dbSNP Id: rs2053679343

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704332_46704340del , CM000681.2:g.46704332_46704340del	GRCh38
NC_000019.9:g.47207589_47207597del , CM000681.1:g.47207589_47207597del	GRCh37
NC_000019.8:g.51899429_51899437del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.718_726del MANE Select	ENSP00000291281.3:p.Ser240_Ser242del
ENST00000291281.8:c.718_726del	ENSP00000291281.3:p.Ser240_Ser242del
ENST00000433867.5:c.718_726del	ENSP00000393978.1:p.Ser240_Ser242del
ENST00000595515.5:c.718_726del	ENSP00000470804.1:p.Ser240_Ser242del
ENST00000600194.5:c.247_255del	ENSP00000472744.1:p.Ser83_Ser85del
ENST00000601605.5:c.41-3228_41-3220del	ENSP00000470442.1:n.41-3228_41-3220del
ENST00000601806.5:c.247_255del	ENSP00000469106.1:p.Ser83_Ser85del
NM_001079880.1:c.718_726del	NP_001073349.1:p.Ser240_Ser242del
NM_001079881.1:c.718_726del	NP_001073350.1:p.Ser240_Ser242del
NM_001079882.1:c.247_255del	NP_001073351.1:p.Ser83_Ser85del
NM_016457.4:c.718_726del	NP_057541.2:p.Ser240_Ser242del
XM_005258716.2:c.247_255del	XP_005258773.2:p.Ser83_Ser85del
NM_001079880.2:c.718_726del	NP_001073349.1:p.Ser240_Ser242del
NM_001079881.2:c.718_726del	NP_001073350.1:p.Ser240_Ser242del
NM_001079882.2:c.247_255del	NP_001073351.1:p.Ser83_Ser85del
NM_016457.5:c.718_726del MANE Select	NP_057541.2:p.Ser240_Ser242del