Canonical Allele Identifier: CA9531041

Gene: PRKD2

Linked Data

• dbSNP Id: rs373672004
• ExAC: 19:47207556 C / A
• gnomAD v2: 19-47207556-C-A
• gnomAD v4: 19-46704299-C-A
• MyVariant Identifiers: chr19:g.47207556C>A (hg19) ; chr19:g.46704299C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704299C>A , CM000681.2:g.46704299C>A	GRCh38
NC_000019.9:g.47207556C>A , CM000681.1:g.47207556C>A	GRCh37
NC_000019.8:g.51899396C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000291281.9:c.759G>T MANE Select	ENSP00000291281.3:p.Leu253=
ENST00000291281.8:c.759G>T	ENSP00000291281.3:p.Leu253=
ENST00000433867.5:c.759G>T	ENSP00000393978.1:p.Leu253=
ENST00000595515.5:c.759G>T	ENSP00000470804.1:p.Leu253=
ENST00000600194.5:c.288G>T	ENSP00000472744.1:p.Leu96=
ENST00000601605.5:c.41-3187G>T	ENSP00000470442.1:n.41-3187G>T
ENST00000601806.5:c.288G>T	ENSP00000469106.1:p.Leu96=
NM_001079880.1:c.759G>T	NP_001073349.1:p.Leu253=
NM_001079881.1:c.759G>T	NP_001073350.1:p.Leu253=
NM_001079882.1:c.288G>T	NP_001073351.1:p.Leu96=
NM_016457.4:c.759G>T	NP_057541.2:p.Leu253=
XM_005258716.2:c.288G>T	XP_005258773.2:p.Leu96=
NM_001079880.2:c.759G>T	NP_001073349.1:p.Leu253=
NM_001079881.2:c.759G>T	NP_001073350.1:p.Leu253=
NM_001079882.2:c.288G>T	NP_001073351.1:p.Leu96=
NM_016457.5:c.759G>T MANE Select	NP_057541.2:p.Leu253=