Canonical Allele Identifier: CA946311943

Gene: PKP2

Linked Data

• dbSNP Id: rs1282579355
• gnomAD v3: 12-32841319-G-T
• gnomAD v4: 12-32841319-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841319G>T , CM000674.2:g.32841319G>T	GRCh38
NC_000012.11:g.32994253G>T , CM000674.1:g.32994253G>T	GRCh37
NC_000012.10:g.32885520G>T	NCBI36
NG_009000.1:g.60528C>A , LRG_398:g.60528C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-114C>A	ENSP00000515065.2:n.1379-114C>A
ENST00000700563.2:c.1379-114C>A	ENSP00000515066.2:n.1379-114C>A
ENST00000700559.1:c.594-114C>A
ENST00000700560.1:n.594-114C>A
ENST00000700561.1:n.720-114C>A
ENST00000700563.1:c.1333-114C>A
ENST00000700564.1:n.1383-114C>A
ENST00000700565.1:n.1232-114C>A
ENST00000070846.11:c.1511-114C>A	ENSP00000070846.6:n.1511-114C>A
ENST00000340811.9:c.1379-114C>A MANE Select	ENSP00000342800.5:n.1379-114C>A
ENST00000070846.10:c.1511-114C>A	ENSP00000070846.6:n.1511-114C>A
ENST00000340811.8:c.1379-114C>A	ENSP00000342800.4:n.1379-114C>A
ENST00000613243.1:c.1511-114C>A	ENSP00000478295.1:n.1511-114C>A
NM_001005242.2:c.1379-114C>A	NP_001005242.2:n.1379-114C>A
NM_004572.3:c.1511-114C>A , LRG_398t1:c.1511-114C>A	NP_004563.2:n.1511-114C>A
NM_001005242.3:c.1379-114C>A MANE Select	NP_001005242.2:n.1379-114C>A
NM_004572.4:c.1511-114C>A	NP_004563.2:n.1511-114C>A