Canonical Allele Identifier: CA2339042106
Gene: PRKD2 HGNC NCBI

Linked Data

dbSNP Id: rs2053688250

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46704705_46704707del , CM000681.2:g.46704705_46704707del GRCh38
NC_000019.9:g.47207962_47207964del , CM000681.1:g.47207962_47207964del GRCh37
NC_000019.8:g.51899802_51899804del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291281.9:c.512-54_512-52del MANE Select ENSP00000291281.3:n.512-54_512-52del
ENST00000291281.8:c.512-54_512-52del ENSP00000291281.3:n.512-54_512-52del
ENST00000433867.5:c.512-54_512-52del ENSP00000393978.1:n.512-54_512-52del
ENST00000595132.5:c.41-54_41-52del ENSP00000470363.1:n.41-54_41-52del
ENST00000595515.5:c.512-54_512-52del ENSP00000470804.1:n.512-54_512-52del
ENST00000597641.1:c.247-54_247-52del ENSP00000469064.1:n.247-54_247-52del
ENST00000598633.1:c.41-54_41-52del ENSP00000470919.1:n.41-54_41-52del
ENST00000600194.5:c.41-54_41-52del ENSP00000472744.1:n.41-54_41-52del
ENST00000601605.5:c.41-3591_41-3589del ENSP00000470442.1:n.41-3591_41-3589del
ENST00000601806.5:c.41-54_41-52del ENSP00000469106.1:n.41-54_41-52del
NM_001079880.1:c.512-54_512-52del NP_001073349.1:n.512-54_512-52del
NM_001079881.1:c.512-54_512-52del NP_001073350.1:n.512-54_512-52del
NM_001079882.1:c.41-54_41-52del NP_001073351.1:n.41-54_41-52del
NM_016457.4:c.512-54_512-52del NP_057541.2:n.512-54_512-52del
XM_005258716.2:c.41-54_41-52del XP_005258773.2:n.41-54_41-52del
NM_001079880.2:c.512-54_512-52del NP_001073349.1:n.512-54_512-52del
NM_001079881.2:c.512-54_512-52del NP_001073350.1:n.512-54_512-52del
NM_001079882.2:c.41-54_41-52del NP_001073351.1:n.41-54_41-52del
NM_016457.5:c.512-54_512-52del MANE Select NP_057541.2:n.512-54_512-52del