Canonical Allele Identifier: CA2618222898

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796080-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796080C>A , CM000674.2:g.32796080C>A	GRCh38
NC_000012.11:g.32949014C>A , CM000674.1:g.32949014C>A	GRCh37
NC_000012.10:g.32840281C>A	NCBI36
NG_009000.1:g.105767G>T , LRG_398:g.105767G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.860+29G>T
ENST00000700557.2:n.449+29G>T
ENST00000700559.2:c.2168-3349G>T	ENSP00000515065.2:n.2168-3349G>T
ENST00000546498.2:n.1044+29G>T
ENST00000549461.2:n.849+29G>T
ENST00000700555.1:c.788+29G>T	ENSP00000515062.1:n.788+29G>T
ENST00000700556.1:c.828+29G>T
ENST00000700557.1:c.368+29G>T	ENSP00000515064.1:n.368+29G>T
ENST00000700558.1:n.571+29G>T
ENST00000700559.1:c.1383-3349G>T
ENST00000700560.1:n.1572+29G>T
ENST00000700561.1:n.1727G>T
ENST00000070846.11:c.2489+29G>T	ENSP00000070846.6:n.2489+29G>T
ENST00000340811.9:c.2357+29G>T MANE Select	ENSP00000342800.5:n.2357+29G>T
ENST00000070846.10:c.2489+29G>T	ENSP00000070846.6:n.2489+29G>T
ENST00000340811.8:c.2357+29G>T	ENSP00000342800.4:n.2357+29G>T
ENST00000613243.1:c.2487+29G>T	ENSP00000478295.1:n.2487+29G>T
NM_001005242.2:c.2357+29G>T	NP_001005242.2:n.2357+29G>T
NM_004572.3:c.2489+29G>T , LRG_398t1:c.2489+29G>T	NP_004563.2:n.2489+29G>T
NM_001005242.3:c.2357+29G>T MANE Select	NP_001005242.2:n.2357+29G>T
NM_004572.4:c.2489+29G>T	NP_004563.2:n.2489+29G>T