Canonical Allele Identifier: CA406488889

Gene: PRKD2

Linked Data

• dbSNP Id: rs1386246308
• gnomAD v2: 19-47207470-T-C
• gnomAD v4: 19-46704213-T-C
• MyVariant Identifiers: chr19:g.47207470T>C (hg19) ; chr19:g.46704213T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704213T>C , CM000681.2:g.46704213T>C	GRCh38
NC_000019.9:g.47207470T>C , CM000681.1:g.47207470T>C	GRCh37
NC_000019.8:g.51899310T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.845A>G MANE Select	ENSP00000291281.3:p.Lys282Arg
ENST00000291281.8:c.845A>G	ENSP00000291281.3:p.Lys282Arg
ENST00000433867.5:c.845A>G	ENSP00000393978.1:p.Lys282Arg
ENST00000595515.5:c.845A>G	ENSP00000470804.1:p.Lys282Arg
ENST00000600194.5:c.374A>G	ENSP00000472744.1:p.Lys125Arg
ENST00000601605.5:c.41-3101A>G	ENSP00000470442.1:n.41-3101A>G
ENST00000601806.5:c.374A>G	ENSP00000469106.1:p.Lys125Arg
NM_001079880.1:c.845A>G	NP_001073349.1:p.Lys282Arg
NM_001079881.1:c.845A>G	NP_001073350.1:p.Lys282Arg
NM_001079882.1:c.374A>G	NP_001073351.1:p.Lys125Arg
NM_016457.4:c.845A>G	NP_057541.2:p.Lys282Arg
XM_005258716.2:c.374A>G	XP_005258773.2:p.Lys125Arg
NM_001079880.2:c.845A>G	NP_001073349.1:p.Lys282Arg
NM_001079881.2:c.845A>G	NP_001073350.1:p.Lys282Arg
NM_001079882.2:c.374A>G	NP_001073351.1:p.Lys125Arg
NM_016457.5:c.845A>G MANE Select	NP_057541.2:p.Lys282Arg