Canonical Allele Identifier: CA946318050

Gene: PKP2

Linked Data

• dbSNP Id: rs1956687138
• gnomAD v3: 12-32850643-T-A
• gnomAD v4: 12-32850643-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850643T>A , CM000674.2:g.32850643T>A	GRCh38
NC_000012.11:g.33003577T>A , CM000674.1:g.33003577T>A	GRCh37
NC_000012.10:g.32894844T>A	NCBI36
NG_009000.1:g.51204A>T , LRG_398:g.51204A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+123A>T	ENSP00000515065.2:n.1378+123A>T
ENST00000700563.2:c.1378+123A>T	ENSP00000515066.2:n.1378+123A>T
ENST00000700559.1:c.593+123A>T
ENST00000700560.1:n.593+123A>T
ENST00000700561.1:n.719+123A>T
ENST00000700563.1:c.1332+123A>T
ENST00000700564.1:n.1382+123A>T
ENST00000700565.1:n.1231+123A>T
ENST00000070846.11:c.1378+123A>T	ENSP00000070846.6:n.1378+123A>T
ENST00000340811.9:c.1378+123A>T MANE Select	ENSP00000342800.5:n.1378+123A>T
ENST00000070846.10:c.1378+123A>T	ENSP00000070846.6:n.1378+123A>T
ENST00000340811.8:c.1378+123A>T	ENSP00000342800.4:n.1378+123A>T
ENST00000613243.1:c.1378+123A>T	ENSP00000478295.1:n.1378+123A>T
NM_001005242.2:c.1378+123A>T	NP_001005242.2:n.1378+123A>T
NM_004572.3:c.1378+123A>T , LRG_398t1:c.1378+123A>T	NP_004563.2:n.1378+123A>T
NM_001005242.3:c.1378+123A>T MANE Select	NP_001005242.2:n.1378+123A>T
NM_004572.4:c.1378+123A>T	NP_004563.2:n.1378+123A>T