Canonical Allele Identifier: CA507974905

Gene: PRKD2

Linked Data

• dbSNP Id: rs1333287321
• gnomAD v2: 19-47207598-G-C
• gnomAD v4: 19-46704341-G-C
• MyVariant Identifiers: chr19:g.47207598G>C (hg19) ; chr19:g.46704341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704341G>C , CM000681.2:g.46704341G>C	GRCh38
NC_000019.9:g.47207598G>C , CM000681.1:g.47207598G>C	GRCh37
NC_000019.8:g.51899438G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.717C>G MANE Select	ENSP00000291281.3:p.Ser239=
ENST00000291281.8:c.717C>G	ENSP00000291281.3:p.Ser239=
ENST00000433867.5:c.717C>G	ENSP00000393978.1:p.Ser239=
ENST00000595515.5:c.717C>G	ENSP00000470804.1:p.Ser239=
ENST00000597641.1:c.452C>G	ENSP00000469064.1:n.452C>G
ENST00000600194.5:c.246C>G	ENSP00000472744.1:p.Ser82=
ENST00000601605.5:c.41-3229C>G	ENSP00000470442.1:n.41-3229C>G
ENST00000601806.5:c.246C>G	ENSP00000469106.1:p.Ser82=
NM_001079880.1:c.717C>G	NP_001073349.1:p.Ser239=
NM_001079881.1:c.717C>G	NP_001073350.1:p.Ser239=
NM_001079882.1:c.246C>G	NP_001073351.1:p.Ser82=
NM_016457.4:c.717C>G	NP_057541.2:p.Ser239=
XM_005258716.2:c.246C>G	XP_005258773.2:p.Ser82=
NM_001079880.2:c.717C>G	NP_001073349.1:p.Ser239=
NM_001079881.2:c.717C>G	NP_001073350.1:p.Ser239=
NM_001079882.2:c.246C>G	NP_001073351.1:p.Ser82=
NM_016457.5:c.717C>G MANE Select	NP_057541.2:p.Ser239=