Canonical Allele Identifier: CA507974952

Gene: PRKD2

Linked Data

• dbSNP Id: rs2053680569
• gnomAD v4: 19-46704371-G-A
• MyVariant Identifiers: chr19:g.47207628G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704371G>A , CM000681.2:g.46704371G>A	GRCh38
NC_000019.9:g.47207628G>A , CM000681.1:g.47207628G>A	GRCh37
NC_000019.8:g.51899468G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.687C>T MANE Select	ENSP00000291281.3:p.Leu229=
ENST00000291281.8:c.687C>T	ENSP00000291281.3:p.Leu229=
ENST00000433867.5:c.687C>T	ENSP00000393978.1:p.Leu229=
ENST00000595515.5:c.687C>T	ENSP00000470804.1:p.Leu229=
ENST00000597641.1:c.422C>T	ENSP00000469064.1:n.422C>T
ENST00000600194.5:c.216C>T	ENSP00000472744.1:p.Leu72=
ENST00000601605.5:c.41-3259C>T	ENSP00000470442.1:n.41-3259C>T
ENST00000601806.5:c.216C>T	ENSP00000469106.1:p.Leu72=
NM_001079880.1:c.687C>T	NP_001073349.1:p.Leu229=
NM_001079881.1:c.687C>T	NP_001073350.1:p.Leu229=
NM_001079882.1:c.216C>T	NP_001073351.1:p.Leu72=
NM_016457.4:c.687C>T	NP_057541.2:p.Leu229=
XM_005258716.2:c.216C>T	XP_005258773.2:p.Leu72=
NM_001079880.2:c.687C>T	NP_001073349.1:p.Leu229=
NM_001079881.2:c.687C>T	NP_001073350.1:p.Leu229=
NM_001079882.2:c.216C>T	NP_001073351.1:p.Leu72=
NM_016457.5:c.687C>T MANE Select	NP_057541.2:p.Leu229=