Canonical Allele Identifier: CA946302236

Gene: PKP2

Linked Data

• dbSNP Id: rs1956388539
• gnomAD v3: 12-32822398-CAT-C
• gnomAD v4: 12-32822398-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822402_32822403del , CM000674.2:g.32822402_32822403del	GRCh38
NC_000012.11:g.32975336_32975337del , CM000674.1:g.32975336_32975337del	GRCh37
NC_000012.10:g.32866603_32866604del	NCBI36
NG_009000.1:g.79447_79448del , LRG_398:g.79447_79448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.342+76_342+77del
ENST00000700559.2:c.1839+67_1839+68del	ENSP00000515065.2:n.1839+67_1839+68del
ENST00000700563.2:c.1839+67_1839+68del	ENSP00000515066.2:n.1839+67_1839+68del
ENST00000546498.2:n.526+67_526+68del
ENST00000700555.1:c.270+76_270+77del	ENSP00000515062.1:n.270+76_270+77del
ENST00000700556.1:c.310+67_310+68del
ENST00000700559.1:c.1054+67_1054+68del
ENST00000700560.1:n.1054+67_1054+68del
ENST00000700561.1:n.1180+67_1180+68del
ENST00000700563.1:c.1793+67_1793+68del
ENST00000700564.1:n.1843+67_1843+68del
ENST00000070846.11:c.1971+67_1971+68del	ENSP00000070846.6:n.1971+67_1971+68del
ENST00000340811.9:c.1839+67_1839+68del MANE Select	ENSP00000342800.5:n.1839+67_1839+68del
ENST00000070846.10:c.1971+67_1971+68del	ENSP00000070846.6:n.1971+67_1971+68del
ENST00000340811.8:c.1839+67_1839+68del	ENSP00000342800.4:n.1839+67_1839+68del
ENST00000546498.1:n.526+67_526+68del
ENST00000552612.5:n.260+67_260+68del
ENST00000613243.1:c.1971+67_1971+68del	ENSP00000478295.1:n.1971+67_1971+68del
NM_001005242.2:c.1839+67_1839+68del	NP_001005242.2:n.1839+67_1839+68del
NM_004572.3:c.1971+67_1971+68del , LRG_398t1:c.1971+67_1971+68del	NP_004563.2:n.1971+67_1971+68del
NM_001005242.3:c.1839+67_1839+68del MANE Select	NP_001005242.2:n.1839+67_1839+68del
NM_004572.4:c.1971+67_1971+68del	NP_004563.2:n.1971+67_1971+68del