Canonical Allele Identifier: CA946319249

Gene: PKP2

Linked Data

• dbSNP Id: rs1956193646
• gnomAD v3: 12-32802676-TGAGAC-T
• gnomAD v4: 12-32802676-TGAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802677_32802681del , CM000674.2:g.32802677_32802681del	GRCh38
NC_000012.11:g.32955611_32955615del , CM000674.1:g.32955611_32955615del	GRCh37
NC_000012.10:g.32846878_32846882del	NCBI36
NG_009000.1:g.99166_99170del , LRG_398:g.99166_99170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.517-125_517-121del
ENST00000700557.2:n.106-125_106-121del
ENST00000700559.2:c.2014-125_2014-121del	ENSP00000515065.2:n.2014-125_2014-121del
ENST00000546498.2:n.701-125_701-121del
ENST00000549461.2:n.553-125_553-121del
ENST00000700555.1:c.445-125_445-121del	ENSP00000515062.1:n.445-125_445-121del
ENST00000700556.1:c.485-125_485-121del
ENST00000700557.1:c.25-125_25-121del	ENSP00000515064.1:n.25-125_25-121del
ENST00000700558.1:n.228-125_228-121del
ENST00000700559.1:c.1229-125_1229-121del
ENST00000700560.1:n.1229-125_1229-121del
ENST00000700561.1:n.1355-125_1355-121del
ENST00000070846.11:c.2146-125_2146-121del	ENSP00000070846.6:n.2146-125_2146-121del
ENST00000340811.9:c.2014-125_2014-121del MANE Select	ENSP00000342800.5:n.2014-125_2014-121del
ENST00000070846.10:c.2146-125_2146-121del	ENSP00000070846.6:n.2146-125_2146-121del
ENST00000340811.8:c.2014-125_2014-121del	ENSP00000342800.4:n.2014-125_2014-121del
ENST00000549461.1:n.460-125_460-121del
ENST00000613243.1:c.2146-125_2146-121del	ENSP00000478295.1:n.2146-125_2146-121del
NM_001005242.2:c.2014-125_2014-121del	NP_001005242.2:n.2014-125_2014-121del
NM_004572.3:c.2146-125_2146-121del , LRG_398t1:c.2146-125_2146-121del	NP_004563.2:n.2146-125_2146-121del
NM_001005242.3:c.2014-125_2014-121del MANE Select	NP_001005242.2:n.2014-125_2014-121del
NM_004572.4:c.2146-125_2146-121del	NP_004563.2:n.2146-125_2146-121del