Canonical Allele Identifier: CA406490183

Gene: PRKD2

Linked Data

• MyVariant Identifiers: chr19:g.47207903C>G (hg19) ; chr19:g.46704646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704646C>G , CM000681.2:g.46704646C>G	GRCh38
NC_000019.9:g.47207903C>G , CM000681.1:g.47207903C>G	GRCh37
NC_000019.8:g.51899743C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.515G>C MANE Select	ENSP00000291281.3:p.Cys172Ser
ENST00000291281.8:c.515G>C	ENSP00000291281.3:p.Cys172Ser
ENST00000433867.5:c.515G>C	ENSP00000393978.1:p.Cys172Ser
ENST00000595132.5:c.44G>C	ENSP00000470363.1:p.Cys15Ser
ENST00000595515.5:c.515G>C	ENSP00000470804.1:p.Cys172Ser
ENST00000597641.1:c.250G>C	ENSP00000469064.1:n.250G>C
ENST00000598633.1:c.44G>C	ENSP00000470919.1:p.Cys15Ser
ENST00000600194.5:c.44G>C	ENSP00000472744.1:p.Cys15Ser
ENST00000601605.5:c.41-3534G>C	ENSP00000470442.1:n.41-3534G>C
ENST00000601806.5:c.44G>C	ENSP00000469106.1:p.Cys15Ser
NM_001079880.1:c.515G>C	NP_001073349.1:p.Cys172Ser
NM_001079881.1:c.515G>C	NP_001073350.1:p.Cys172Ser
NM_001079882.1:c.44G>C	NP_001073351.1:p.Cys15Ser
NM_016457.4:c.515G>C	NP_057541.2:p.Cys172Ser
XM_005258716.2:c.44G>C	XP_005258773.2:p.Cys15Ser
NM_001079880.2:c.515G>C	NP_001073349.1:p.Cys172Ser
NM_001079881.2:c.515G>C	NP_001073350.1:p.Cys172Ser
NM_001079882.2:c.44G>C	NP_001073351.1:p.Cys15Ser
NM_016457.5:c.515G>C MANE Select	NP_057541.2:p.Cys172Ser