Canonical Allele Identifier: CA2573148518

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1571169
• ClinVar RCV Id: RCV002217504 ; RCV002224143
• dbSNP Id: rs2137863489

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850975_32850978dup , CM000674.2:g.32850975_32850978dup	GRCh38
NC_000012.11:g.33003909_33003912dup , CM000674.1:g.33003909_33003912dup	GRCh37
NC_000012.10:g.32895176_32895179dup	NCBI36
NG_009000.1:g.50869_50872dup , LRG_398:g.50869_50872dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1171-5_1171-2dup	ENSP00000515065.2:n.1171-5_1171-2dup
ENST00000700563.2:c.1171-5_1171-2dup	ENSP00000515066.2:n.1171-5_1171-2dup
ENST00000700559.1:c.386-5_386-2dup
ENST00000700560.1:n.386-5_386-2dup
ENST00000700561.1:n.512-5_512-2dup
ENST00000700563.1:c.1125-5_1125-2dup
ENST00000700564.1:n.1175-5_1175-2dup
ENST00000700565.1:n.1024-5_1024-2dup
ENST00000070846.11:c.1171-5_1171-2dup	ENSP00000070846.6:n.1171-5_1171-2dup
ENST00000340811.9:c.1171-5_1171-2dup MANE Select	ENSP00000342800.5:n.1171-5_1171-2dup
ENST00000070846.10:c.1171-5_1171-2dup	ENSP00000070846.6:n.1171-5_1171-2dup
ENST00000340811.8:c.1171-5_1171-2dup	ENSP00000342800.4:n.1171-5_1171-2dup
ENST00000613243.1:c.1171-5_1171-2dup	ENSP00000478295.1:n.1171-5_1171-2dup
NM_001005242.2:c.1171-5_1171-2dup	NP_001005242.2:n.1171-5_1171-2dup
NM_004572.3:c.1171-5_1171-2dup , LRG_398t1:c.1171-5_1171-2dup	NP_004563.2:n.1171-5_1171-2dup
NM_001005242.3:c.1171-5_1171-2dup MANE Select	NP_001005242.2:n.1171-5_1171-2dup
NM_004572.4:c.1171-5_1171-2dup	NP_004563.2:n.1171-5_1171-2dup