Canonical Allele Identifier: CA946317964

Gene: PKP2

Linked Data

• dbSNP Id: rs1956686519
• gnomAD v3: 12-32850564-TCA-T
• gnomAD v4: 12-32850564-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850565_32850566del , CM000674.2:g.32850565_32850566del	GRCh38
NC_000012.11:g.33003499_33003500del , CM000674.1:g.33003499_33003500del	GRCh37
NC_000012.10:g.32894766_32894767del	NCBI36
NG_009000.1:g.51281_51282del , LRG_398:g.51281_51282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+200_1378+201del	ENSP00000515065.2:n.1378+200_1378+201del
ENST00000700563.2:c.1378+200_1378+201del	ENSP00000515066.2:n.1378+200_1378+201del
ENST00000700559.1:c.593+200_593+201del
ENST00000700560.1:n.593+200_593+201del
ENST00000700561.1:n.719+200_719+201del
ENST00000700563.1:c.1332+200_1332+201del
ENST00000700564.1:n.1382+200_1382+201del
ENST00000700565.1:n.1231+200_1231+201del
ENST00000070846.11:c.1378+200_1378+201del	ENSP00000070846.6:n.1378+200_1378+201del
ENST00000340811.9:c.1378+200_1378+201del MANE Select	ENSP00000342800.5:n.1378+200_1378+201del
ENST00000070846.10:c.1378+200_1378+201del	ENSP00000070846.6:n.1378+200_1378+201del
ENST00000340811.8:c.1378+200_1378+201del	ENSP00000342800.4:n.1378+200_1378+201del
ENST00000613243.1:c.1378+200_1378+201del	ENSP00000478295.1:n.1378+200_1378+201del
NM_001005242.2:c.1378+200_1378+201del	NP_001005242.2:n.1378+200_1378+201del
NM_004572.3:c.1378+200_1378+201del , LRG_398t1:c.1378+200_1378+201del	NP_004563.2:n.1378+200_1378+201del
NM_001005242.3:c.1378+200_1378+201del MANE Select	NP_001005242.2:n.1378+200_1378+201del
NM_004572.4:c.1378+200_1378+201del	NP_004563.2:n.1378+200_1378+201del