Canonical Allele Identifier: CA2618222880

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796068-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796068G>T , CM000674.2:g.32796068G>T	GRCh38
NC_000012.11:g.32949002G>T , CM000674.1:g.32949002G>T	GRCh37
NC_000012.10:g.32840269G>T	NCBI36
NG_009000.1:g.105779C>A , LRG_398:g.105779C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.860+41C>A
ENST00000700557.2:n.449+41C>A
ENST00000700559.2:c.2168-3337C>A	ENSP00000515065.2:n.2168-3337C>A
ENST00000546498.2:n.1044+41C>A
ENST00000549461.2:n.849+41C>A
ENST00000700555.1:c.788+41C>A	ENSP00000515062.1:n.788+41C>A
ENST00000700556.1:c.828+41C>A
ENST00000700557.1:c.368+41C>A	ENSP00000515064.1:n.368+41C>A
ENST00000700558.1:n.571+41C>A
ENST00000700559.1:c.1383-3337C>A
ENST00000700560.1:n.1572+41C>A
ENST00000700561.1:n.1739C>A
ENST00000070846.11:c.2489+41C>A	ENSP00000070846.6:n.2489+41C>A
ENST00000340811.9:c.2357+41C>A MANE Select	ENSP00000342800.5:n.2357+41C>A
ENST00000070846.10:c.2489+41C>A	ENSP00000070846.6:n.2489+41C>A
ENST00000340811.8:c.2357+41C>A	ENSP00000342800.4:n.2357+41C>A
ENST00000613243.1:c.2487+41C>A	ENSP00000478295.1:n.2487+41C>A
NM_001005242.2:c.2357+41C>A	NP_001005242.2:n.2357+41C>A
NM_004572.3:c.2489+41C>A , LRG_398t1:c.2489+41C>A	NP_004563.2:n.2489+41C>A
NM_001005242.3:c.2357+41C>A MANE Select	NP_001005242.2:n.2357+41C>A
NM_004572.4:c.2489+41C>A	NP_004563.2:n.2489+41C>A