Canonical Allele Identifier: CA2575118497

Gene: PKP2

Linked Data

• gnomAD v4: 12-32869074-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32869074G>A , CM000674.2:g.32869074G>A	GRCh38
NC_000012.11:g.33022008G>A , CM000674.1:g.33022008G>A	GRCh37
NC_000012.10:g.32913275G>A	NCBI36
NG_009000.1:g.32773C>T , LRG_398:g.32773C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1035-12C>T	ENSP00000515065.2:n.1035-12C>T
ENST00000700563.2:c.1035-12C>T	ENSP00000515066.2:n.1035-12C>T
ENST00000700559.1:c.250-12C>T
ENST00000700560.1:n.250-12C>T
ENST00000700561.1:n.376-12C>T
ENST00000700563.1:c.989-12C>T
ENST00000700564.1:n.1039-12C>T
ENST00000700565.1:n.888-12C>T
ENST00000070846.11:c.1035-12C>T	ENSP00000070846.6:n.1035-12C>T
ENST00000340811.9:c.1035-12C>T MANE Select	ENSP00000342800.5:n.1035-12C>T
ENST00000070846.10:c.1035-12C>T	ENSP00000070846.6:n.1035-12C>T
ENST00000340811.8:c.1035-12C>T	ENSP00000342800.4:n.1035-12C>T
ENST00000613243.1:c.1035-12C>T	ENSP00000478295.1:n.1035-12C>T
NM_001005242.2:c.1035-12C>T	NP_001005242.2:n.1035-12C>T
NM_004572.3:c.1035-12C>T , LRG_398t1:c.1035-12C>T	NP_004563.2:n.1035-12C>T
NM_001005242.3:c.1035-12C>T MANE Select	NP_001005242.2:n.1035-12C>T
NM_004572.4:c.1035-12C>T	NP_004563.2:n.1035-12C>T