Canonical Allele Identifier: CA309105313

Gene: PRKD2

Linked Data

• dbSNP Id: rs976363809
• gnomAD v2: 19-47207563-A-G
• gnomAD v3: 19-46704306-A-G
• gnomAD v4: 19-46704306-A-G
• MyVariant Identifiers: chr19:g.47207563A>G (hg19) ; chr19:g.46704306A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704306A>G , CM000681.2:g.46704306A>G	GRCh38
NC_000019.9:g.47207563A>G , CM000681.1:g.47207563A>G	GRCh37
NC_000019.8:g.51899403A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000291281.9:c.752T>C MANE Select	ENSP00000291281.3:p.Ile251Thr
ENST00000291281.8:c.752T>C	ENSP00000291281.3:p.Ile251Thr
ENST00000433867.5:c.752T>C	ENSP00000393978.1:p.Ile251Thr
ENST00000595515.5:c.752T>C	ENSP00000470804.1:p.Ile251Thr
ENST00000600194.5:c.281T>C	ENSP00000472744.1:p.Ile94Thr
ENST00000601605.5:c.41-3194T>C	ENSP00000470442.1:n.41-3194T>C
ENST00000601806.5:c.281T>C	ENSP00000469106.1:p.Ile94Thr
NM_001079880.1:c.752T>C	NP_001073349.1:p.Ile251Thr
NM_001079881.1:c.752T>C	NP_001073350.1:p.Ile251Thr
NM_001079882.1:c.281T>C	NP_001073351.1:p.Ile94Thr
NM_016457.4:c.752T>C	NP_057541.2:p.Ile251Thr
XM_005258716.2:c.281T>C	XP_005258773.2:p.Ile94Thr
NM_001079880.2:c.752T>C	NP_001073349.1:p.Ile251Thr
NM_001079881.2:c.752T>C	NP_001073350.1:p.Ile251Thr
NM_001079882.2:c.281T>C	NP_001073351.1:p.Ile94Thr
NM_016457.5:c.752T>C MANE Select	NP_057541.2:p.Ile251Thr