Canonical Allele Identifier: CA2618223093

Gene: PKP2

Linked Data

• gnomAD v4: 12-32802331-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802331A>T , CM000674.2:g.32802331A>T	GRCh38
NC_000012.11:g.32955265A>T , CM000674.1:g.32955265A>T	GRCh37
NC_000012.10:g.32846532A>T	NCBI36
NG_009000.1:g.99516T>A , LRG_398:g.99516T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.670+72T>A
ENST00000700557.2:n.259+72T>A
ENST00000700559.2:c.2167+72T>A	ENSP00000515065.2:n.2167+72T>A
ENST00000546498.2:n.854+72T>A
ENST00000549461.2:n.659+119T>A
ENST00000700555.1:c.598+72T>A	ENSP00000515062.1:n.598+72T>A
ENST00000700556.1:c.638+72T>A
ENST00000700557.1:c.178+72T>A	ENSP00000515064.1:n.178+72T>A
ENST00000700558.1:n.381+72T>A
ENST00000700559.1:c.1382+72T>A
ENST00000700560.1:n.1382+72T>A
ENST00000700561.1:n.1508+72T>A
ENST00000070846.11:c.2299+72T>A	ENSP00000070846.6:n.2299+72T>A
ENST00000340811.9:c.2167+72T>A MANE Select	ENSP00000342800.5:n.2167+72T>A
ENST00000070846.10:c.2299+72T>A	ENSP00000070846.6:n.2299+72T>A
ENST00000340811.8:c.2167+72T>A	ENSP00000342800.4:n.2167+72T>A
ENST00000613243.1:c.2299+72T>A	ENSP00000478295.1:n.2299+72T>A
NM_001005242.2:c.2167+72T>A	NP_001005242.2:n.2167+72T>A
NM_004572.3:c.2299+72T>A , LRG_398t1:c.2299+72T>A	NP_004563.2:n.2299+72T>A
NM_001005242.3:c.2167+72T>A MANE Select	NP_001005242.2:n.2167+72T>A
NM_004572.4:c.2299+72T>A	NP_004563.2:n.2299+72T>A