Canonical Allele Identifier: CA9531044

Gene: PRKD2

Linked Data

• dbSNP Id: rs770391326
• ExAC: 19:47207564 T / C
• gnomAD v4: 19-46704307-T-C
• MyVariant Identifiers: chr19:g.47207564T>C (hg19) ; chr19:g.46704307T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704307T>C , CM000681.2:g.46704307T>C	GRCh38
NC_000019.9:g.47207564T>C , CM000681.1:g.47207564T>C	GRCh37
NC_000019.8:g.51899404T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000291281.9:c.751A>G MANE Select	ENSP00000291281.3:p.Ile251Val
ENST00000291281.8:c.751A>G	ENSP00000291281.3:p.Ile251Val
ENST00000433867.5:c.751A>G	ENSP00000393978.1:p.Ile251Val
ENST00000595515.5:c.751A>G	ENSP00000470804.1:p.Ile251Val
ENST00000600194.5:c.280A>G	ENSP00000472744.1:p.Ile94Val
ENST00000601605.5:c.41-3195A>G	ENSP00000470442.1:n.41-3195A>G
ENST00000601806.5:c.280A>G	ENSP00000469106.1:p.Ile94Val
NM_001079880.1:c.751A>G	NP_001073349.1:p.Ile251Val
NM_001079881.1:c.751A>G	NP_001073350.1:p.Ile251Val
NM_001079882.1:c.280A>G	NP_001073351.1:p.Ile94Val
NM_016457.4:c.751A>G	NP_057541.2:p.Ile251Val
XM_005258716.2:c.280A>G	XP_005258773.2:p.Ile94Val
NM_001079880.2:c.751A>G	NP_001073349.1:p.Ile251Val
NM_001079881.2:c.751A>G	NP_001073350.1:p.Ile251Val
NM_001079882.2:c.280A>G	NP_001073351.1:p.Ile94Val
NM_016457.5:c.751A>G MANE Select	NP_057541.2:p.Ile251Val