Canonical Allele Identifier: CA2026389267

Gene: PKP2

Linked Data

• dbSNP Id: rs1956687633
• gnomAD v4: 12-32850699-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850699G>A , CM000674.2:g.32850699G>A	GRCh38
NC_000012.11:g.33003633G>A , CM000674.1:g.33003633G>A	GRCh37
NC_000012.10:g.32894900G>A	NCBI36
NG_009000.1:g.51148C>T , LRG_398:g.51148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+67C>T	ENSP00000515065.2:n.1378+67C>T
ENST00000700563.2:c.1378+67C>T	ENSP00000515066.2:n.1378+67C>T
ENST00000700559.1:c.593+67C>T
ENST00000700560.1:n.593+67C>T
ENST00000700561.1:n.719+67C>T
ENST00000700563.1:c.1332+67C>T
ENST00000700564.1:n.1382+67C>T
ENST00000700565.1:n.1231+67C>T
ENST00000070846.11:c.1378+67C>T	ENSP00000070846.6:n.1378+67C>T
ENST00000340811.9:c.1378+67C>T MANE Select	ENSP00000342800.5:n.1378+67C>T
ENST00000070846.10:c.1378+67C>T	ENSP00000070846.6:n.1378+67C>T
ENST00000340811.8:c.1378+67C>T	ENSP00000342800.4:n.1378+67C>T
ENST00000613243.1:c.1378+67C>T	ENSP00000478295.1:n.1378+67C>T
NM_001005242.2:c.1378+67C>T	NP_001005242.2:n.1378+67C>T
NM_004572.3:c.1378+67C>T , LRG_398t1:c.1378+67C>T	NP_004563.2:n.1378+67C>T
NM_001005242.3:c.1378+67C>T MANE Select	NP_001005242.2:n.1378+67C>T
NM_004572.4:c.1378+67C>T	NP_004563.2:n.1378+67C>T