Canonical Allele Identifier: CA406489262

Gene: PRKD2

Linked Data

• dbSNP Id: rs1273019175
• gnomAD v2: 19-47207593-G-A
• gnomAD v4: 19-46704336-G-A
• MyVariant Identifiers: chr19:g.47207593G>A (hg19) ; chr19:g.46704336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704336G>A , CM000681.2:g.46704336G>A	GRCh38
NC_000019.9:g.47207593G>A , CM000681.1:g.47207593G>A	GRCh37
NC_000019.8:g.51899433G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.722C>T MANE Select	ENSP00000291281.3:p.Ser241Phe
ENST00000291281.8:c.722C>T	ENSP00000291281.3:p.Ser241Phe
ENST00000433867.5:c.722C>T	ENSP00000393978.1:p.Ser241Phe
ENST00000595515.5:c.722C>T	ENSP00000470804.1:p.Ser241Phe
ENST00000600194.5:c.251C>T	ENSP00000472744.1:p.Ser84Phe
ENST00000601605.5:c.41-3224C>T	ENSP00000470442.1:n.41-3224C>T
ENST00000601806.5:c.251C>T	ENSP00000469106.1:p.Ser84Phe
NM_001079880.1:c.722C>T	NP_001073349.1:p.Ser241Phe
NM_001079881.1:c.722C>T	NP_001073350.1:p.Ser241Phe
NM_001079882.1:c.251C>T	NP_001073351.1:p.Ser84Phe
NM_016457.4:c.722C>T	NP_057541.2:p.Ser241Phe
XM_005258716.2:c.251C>T	XP_005258773.2:p.Ser84Phe
NM_001079880.2:c.722C>T	NP_001073349.1:p.Ser241Phe
NM_001079881.2:c.722C>T	NP_001073350.1:p.Ser241Phe
NM_001079882.2:c.251C>T	NP_001073351.1:p.Ser84Phe
NM_016457.5:c.722C>T MANE Select	NP_057541.2:p.Ser241Phe