Canonical Allele Identifier: CA2618222912

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796104-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796106dup , CM000674.2:g.32796106dup	GRCh38
NC_000012.11:g.32949040dup , CM000674.1:g.32949040dup	GRCh37
NC_000012.10:g.32840307dup	NCBI36
NG_009000.1:g.105742dup , LRG_398:g.105742dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.860+4dup
ENST00000700557.2:n.449+4dup
ENST00000700559.2:c.2168-3374dup	ENSP00000515065.2:n.2168-3374dup
ENST00000546498.2:n.1044+4dup
ENST00000549461.2:n.849+4dup
ENST00000700555.1:c.788+4dup	ENSP00000515062.1:n.788+4dup
ENST00000700556.1:c.828+4dup
ENST00000700557.1:c.368+4dup	ENSP00000515064.1:n.368+4dup
ENST00000700558.1:n.571+4dup
ENST00000700559.1:c.1383-3374dup
ENST00000700560.1:n.1572+4dup
ENST00000700561.1:n.1702dup
ENST00000070846.11:c.2489+4dup	ENSP00000070846.6:n.2489+4dup
ENST00000340811.9:c.2357+4dup MANE Select	ENSP00000342800.5:n.2357+4dup
ENST00000070846.10:c.2489+4dup	ENSP00000070846.6:n.2489+4dup
ENST00000340811.8:c.2357+4dup	ENSP00000342800.4:n.2357+4dup
ENST00000613243.1:c.2487+4dup	ENSP00000478295.1:n.2487+4dup
NM_001005242.2:c.2357+4dup	NP_001005242.2:n.2357+4dup
NM_004572.3:c.2489+4dup , LRG_398t1:c.2489+4dup	NP_004563.2:n.2489+4dup
NM_001005242.3:c.2357+4dup MANE Select	NP_001005242.2:n.2357+4dup
NM_004572.4:c.2489+4dup	NP_004563.2:n.2489+4dup