Canonical Allele Identifier: CA309105470

Gene: PRKD2

Linked Data

• dbSNP Id: rs199909805
• gnomAD v2: 19-47207783-G-A
• gnomAD v3: 19-46704526-G-A
• gnomAD v4: 19-46704526-G-A
• MyVariant Identifiers: chr19:g.47207783G>A (hg19) ; chr19:g.46704526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704526G>A , CM000681.2:g.46704526G>A	GRCh38
NC_000019.9:g.47207783G>A , CM000681.1:g.47207783G>A	GRCh37
NC_000019.8:g.51899623G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.635C>T MANE Select	ENSP00000291281.3:p.Ser212Phe
ENST00000291281.8:c.635C>T	ENSP00000291281.3:p.Ser212Phe
ENST00000433867.5:c.635C>T	ENSP00000393978.1:p.Ser212Phe
ENST00000595132.5:c.164C>T	ENSP00000470363.1:p.Ser55Phe
ENST00000595515.5:c.635C>T	ENSP00000470804.1:p.Ser212Phe
ENST00000597641.1:c.370C>T	ENSP00000469064.1:n.370C>T
ENST00000600194.5:c.164C>T	ENSP00000472744.1:p.Ser55Phe
ENST00000601605.5:c.41-3414C>T	ENSP00000470442.1:n.41-3414C>T
ENST00000601806.5:c.164C>T	ENSP00000469106.1:p.Ser55Phe
NM_001079880.1:c.635C>T	NP_001073349.1:p.Ser212Phe
NM_001079881.1:c.635C>T	NP_001073350.1:p.Ser212Phe
NM_001079882.1:c.164C>T	NP_001073351.1:p.Ser55Phe
NM_016457.4:c.635C>T	NP_057541.2:p.Ser212Phe
XM_005258716.2:c.164C>T	XP_005258773.2:p.Ser55Phe
NM_001079880.2:c.635C>T	NP_001073349.1:p.Ser212Phe
NM_001079881.2:c.635C>T	NP_001073350.1:p.Ser212Phe
NM_001079882.2:c.164C>T	NP_001073351.1:p.Ser55Phe
NM_016457.5:c.635C>T MANE Select	NP_057541.2:p.Ser212Phe