Canonical Allele Identifier: CA1139662563

Gene: PKP2

Linked Data

• ClinVar Variation Id: 923015
• ClinVar RCV Id: RCV001183400
• dbSNP Id: rs1189037360
• gnomAD v4: 12-32869075-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32869075G>A , CM000674.2:g.32869075G>A	GRCh38
NC_000012.11:g.33022009G>A , CM000674.1:g.33022009G>A	GRCh37
NC_000012.10:g.32913276G>A	NCBI36
NG_009000.1:g.32772C>T , LRG_398:g.32772C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1035-13C>T	ENSP00000515065.2:n.1035-13C>T
ENST00000700563.2:c.1035-13C>T	ENSP00000515066.2:n.1035-13C>T
ENST00000700559.1:c.250-13C>T
ENST00000700560.1:n.250-13C>T
ENST00000700561.1:n.376-13C>T
ENST00000700563.1:c.989-13C>T
ENST00000700564.1:n.1039-13C>T
ENST00000700565.1:n.888-13C>T
ENST00000070846.11:c.1035-13C>T	ENSP00000070846.6:n.1035-13C>T
ENST00000340811.9:c.1035-13C>T MANE Select	ENSP00000342800.5:n.1035-13C>T
ENST00000070846.10:c.1035-13C>T	ENSP00000070846.6:n.1035-13C>T
ENST00000340811.8:c.1035-13C>T	ENSP00000342800.4:n.1035-13C>T
ENST00000613243.1:c.1035-13C>T	ENSP00000478295.1:n.1035-13C>T
NM_001005242.2:c.1035-13C>T	NP_001005242.2:n.1035-13C>T
NM_004572.3:c.1035-13C>T , LRG_398t1:c.1035-13C>T	NP_004563.2:n.1035-13C>T
NM_001005242.3:c.1035-13C>T MANE Select	NP_001005242.2:n.1035-13C>T
NM_004572.4:c.1035-13C>T	NP_004563.2:n.1035-13C>T