Canonical Allele Identifier: CA9531128

Gene: PRKD2

Linked Data

• dbSNP Id: rs763924125
• ExAC: 19:47207943 TG / T
• gnomAD v2: 19-47207943-TG-T
• gnomAD v4: 19-46704686-TG-T
• MyVariant Identifiers: chr19:g.47207944del (hg19) ; chr19:g.46704687del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704687del , CM000681.2:g.46704687del	GRCh38
NC_000019.9:g.47207944del , CM000681.1:g.47207944del	GRCh37
NC_000019.8:g.51899784del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.512-38del MANE Select	ENSP00000291281.3:n.512-38del
ENST00000291281.8:c.512-38del	ENSP00000291281.3:n.512-38del
ENST00000433867.5:c.512-38del	ENSP00000393978.1:n.512-38del
ENST00000595132.5:c.41-38del	ENSP00000470363.1:n.41-38del
ENST00000595515.5:c.512-38del	ENSP00000470804.1:n.512-38del
ENST00000597641.1:c.247-38del	ENSP00000469064.1:n.247-38del
ENST00000598633.1:c.41-38del	ENSP00000470919.1:n.41-38del
ENST00000600194.5:c.41-38del	ENSP00000472744.1:n.41-38del
ENST00000601605.5:c.41-3575del	ENSP00000470442.1:n.41-3575del
ENST00000601806.5:c.41-38del	ENSP00000469106.1:n.41-38del
NM_001079880.1:c.512-38del	NP_001073349.1:n.512-38del
NM_001079881.1:c.512-38del	NP_001073350.1:n.512-38del
NM_001079882.1:c.41-38del	NP_001073351.1:n.41-38del
NM_016457.4:c.512-38del	NP_057541.2:n.512-38del
XM_005258716.2:c.41-38del	XP_005258773.2:n.41-38del
NM_001079880.2:c.512-38del	NP_001073349.1:n.512-38del
NM_001079881.2:c.512-38del	NP_001073350.1:n.512-38del
NM_001079882.2:c.41-38del	NP_001073351.1:n.41-38del
NM_016457.5:c.512-38del MANE Select	NP_057541.2:n.512-38del