Canonical Allele Identifier: CA406489042
Gene: PRKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46704274T>G , CM000681.2:g.46704274T>G GRCh38
NC_000019.9:g.47207531T>G , CM000681.1:g.47207531T>G GRCh37
NC_000019.8:g.51899371T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291281.9:c.784A>C MANE Select ENSP00000291281.3:p.Lys262Gln
ENST00000291281.8:c.784A>C ENSP00000291281.3:p.Lys262Gln
ENST00000433867.5:c.784A>C ENSP00000393978.1:p.Lys262Gln
ENST00000595515.5:c.784A>C ENSP00000470804.1:p.Lys262Gln
ENST00000600194.5:c.313A>C ENSP00000472744.1:p.Lys105Gln
ENST00000601605.5:c.41-3162A>C ENSP00000470442.1:n.41-3162A>C
ENST00000601806.5:c.313A>C ENSP00000469106.1:p.Lys105Gln
NM_001079880.1:c.784A>C NP_001073349.1:p.Lys262Gln
NM_001079881.1:c.784A>C NP_001073350.1:p.Lys262Gln
NM_001079882.1:c.313A>C NP_001073351.1:p.Lys105Gln
NM_016457.4:c.784A>C NP_057541.2:p.Lys262Gln
XM_005258716.2:c.313A>C XP_005258773.2:p.Lys105Gln
NM_001079880.2:c.784A>C NP_001073349.1:p.Lys262Gln
NM_001079881.2:c.784A>C NP_001073350.1:p.Lys262Gln
NM_001079882.2:c.313A>C NP_001073351.1:p.Lys105Gln
NM_016457.5:c.784A>C MANE Select NP_057541.2:p.Lys262Gln