Canonical Allele Identifier: CA996424514

Gene: PRKD2

Linked Data

• dbSNP Id: rs2053697424
• gnomAD v3: 19-46705231-TAAGC-T
• gnomAD v4: 19-46705231-TAAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46705233_46705236del , CM000681.2:g.46705233_46705236del	GRCh38
NC_000019.9:g.47208490_47208493del , CM000681.1:g.47208490_47208493del	GRCh37
NC_000019.8:g.51900330_51900333del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000291281.9:c.512-586_512-583del MANE Select	ENSP00000291281.3:n.512-586_512-583del
ENST00000291281.8:c.512-586_512-583del	ENSP00000291281.3:n.512-586_512-583del
ENST00000433867.5:c.512-586_512-583del	ENSP00000393978.1:n.512-586_512-583del
ENST00000595132.5:c.41-586_41-583del	ENSP00000470363.1:n.41-586_41-583del
ENST00000595515.5:c.512-586_512-583del	ENSP00000470804.1:n.512-586_512-583del
ENST00000597641.1:c.247-586_247-583del	ENSP00000469064.1:n.247-586_247-583del
ENST00000598633.1:c.41-586_41-583del	ENSP00000470919.1:n.41-586_41-583del
ENST00000600194.5:c.41-586_41-583del	ENSP00000472744.1:n.41-586_41-583del
ENST00000601605.5:c.41-4123_41-4120del	ENSP00000470442.1:n.41-4123_41-4120del
ENST00000601806.5:c.41-586_41-583del	ENSP00000469106.1:n.41-586_41-583del
NM_001079880.1:c.512-586_512-583del	NP_001073349.1:n.512-586_512-583del
NM_001079881.1:c.512-586_512-583del	NP_001073350.1:n.512-586_512-583del
NM_001079882.1:c.41-586_41-583del	NP_001073351.1:n.41-586_41-583del
NM_016457.4:c.512-586_512-583del	NP_057541.2:n.512-586_512-583del
XM_005258716.2:c.41-586_41-583del	XP_005258773.2:n.41-586_41-583del
NM_001079880.2:c.512-586_512-583del	NP_001073349.1:n.512-586_512-583del
NM_001079881.2:c.512-586_512-583del	NP_001073350.1:n.512-586_512-583del
NM_001079882.2:c.41-586_41-583del	NP_001073351.1:n.41-586_41-583del
NM_016457.5:c.512-586_512-583del MANE Select	NP_057541.2:n.512-586_512-583del