Canonical Allele Identifier: CA406489059
Gene: PRKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46704279T>A , CM000681.2:g.46704279T>A GRCh38
NC_000019.9:g.47207536T>A , CM000681.1:g.47207536T>A GRCh37
NC_000019.8:g.51899376T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291281.9:c.779A>T MANE Select ENSP00000291281.3:p.Lys260Met
ENST00000291281.8:c.779A>T ENSP00000291281.3:p.Lys260Met
ENST00000433867.5:c.779A>T ENSP00000393978.1:p.Lys260Met
ENST00000595515.5:c.779A>T ENSP00000470804.1:p.Lys260Met
ENST00000600194.5:c.308A>T ENSP00000472744.1:p.Lys103Met
ENST00000601605.5:c.41-3167A>T ENSP00000470442.1:n.41-3167A>T
ENST00000601806.5:c.308A>T ENSP00000469106.1:p.Lys103Met
NM_001079880.1:c.779A>T NP_001073349.1:p.Lys260Met
NM_001079881.1:c.779A>T NP_001073350.1:p.Lys260Met
NM_001079882.1:c.308A>T NP_001073351.1:p.Lys103Met
NM_016457.4:c.779A>T NP_057541.2:p.Lys260Met
XM_005258716.2:c.308A>T XP_005258773.2:p.Lys103Met
NM_001079880.2:c.779A>T NP_001073349.1:p.Lys260Met
NM_001079881.2:c.779A>T NP_001073350.1:p.Lys260Met
NM_001079882.2:c.308A>T NP_001073351.1:p.Lys103Met
NM_016457.5:c.779A>T MANE Select NP_057541.2:p.Lys260Met