Canonical Allele Identifier: CA2739271933

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2858779
• ClinVar RCV Id: RCV003617549

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822641C>T , CM000674.2:g.32822641C>T	GRCh38
NC_000012.11:g.32975575C>T , CM000674.1:g.32975575C>T	GRCh37
NC_000012.10:g.32866842C>T	NCBI36
NG_009000.1:g.79206G>A , LRG_398:g.79206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-10G>A
ENST00000700559.2:c.1675-10G>A	ENSP00000515065.2:n.1675-10G>A
ENST00000700563.2:c.1675-10G>A	ENSP00000515066.2:n.1675-10G>A
ENST00000546498.2:n.362-10G>A
ENST00000700555.1:c.115-10G>A	ENSP00000515062.1:n.115-10G>A
ENST00000700556.1:c.146-10G>A
ENST00000700559.1:c.890-10G>A
ENST00000700560.1:n.890-10G>A
ENST00000700561.1:n.1016-10G>A
ENST00000700563.1:c.1629-10G>A
ENST00000700564.1:n.1679-10G>A
ENST00000070846.11:c.1807-10G>A	ENSP00000070846.6:n.1807-10G>A
ENST00000340811.9:c.1675-10G>A MANE Select	ENSP00000342800.5:n.1675-10G>A
ENST00000070846.10:c.1807-10G>A	ENSP00000070846.6:n.1807-10G>A
ENST00000340811.8:c.1675-10G>A	ENSP00000342800.4:n.1675-10G>A
ENST00000546498.1:n.362-10G>A
ENST00000552612.5:n.96-10G>A
ENST00000613243.1:c.1807-10G>A	ENSP00000478295.1:n.1807-10G>A
NM_001005242.2:c.1675-10G>A	NP_001005242.2:n.1675-10G>A
NM_004572.3:c.1807-10G>A , LRG_398t1:c.1807-10G>A	NP_004563.2:n.1807-10G>A
NM_001005242.3:c.1675-10G>A MANE Select	NP_001005242.2:n.1675-10G>A
NM_004572.4:c.1807-10G>A	NP_004563.2:n.1807-10G>A