Canonical Allele Identifier: CA2618232125

Gene: PKP2

Linked Data

• gnomAD v4: 12-32850620-G-GGTAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850621_32850625dup , CM000674.2:g.32850621_32850625dup	GRCh38
NC_000012.11:g.33003555_33003559dup , CM000674.1:g.33003555_33003559dup	GRCh37
NC_000012.10:g.32894822_32894826dup	NCBI36
NG_009000.1:g.51222_51226dup , LRG_398:g.51222_51226dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+141_1378+145dup	ENSP00000515065.2:n.1378+141_1378+145dup
ENST00000700563.2:c.1378+141_1378+145dup	ENSP00000515066.2:n.1378+141_1378+145dup
ENST00000700559.1:c.593+141_593+145dup
ENST00000700560.1:n.593+141_593+145dup
ENST00000700561.1:n.719+141_719+145dup
ENST00000700563.1:c.1332+141_1332+145dup
ENST00000700564.1:n.1382+141_1382+145dup
ENST00000700565.1:n.1231+141_1231+145dup
ENST00000070846.11:c.1378+141_1378+145dup	ENSP00000070846.6:n.1378+141_1378+145dup
ENST00000340811.9:c.1378+141_1378+145dup MANE Select	ENSP00000342800.5:n.1378+141_1378+145dup
ENST00000070846.10:c.1378+141_1378+145dup	ENSP00000070846.6:n.1378+141_1378+145dup
ENST00000340811.8:c.1378+141_1378+145dup	ENSP00000342800.4:n.1378+141_1378+145dup
ENST00000613243.1:c.1378+141_1378+145dup	ENSP00000478295.1:n.1378+141_1378+145dup
NM_001005242.2:c.1378+141_1378+145dup	NP_001005242.2:n.1378+141_1378+145dup
NM_004572.3:c.1378+141_1378+145dup , LRG_398t1:c.1378+141_1378+145dup	NP_004563.2:n.1378+141_1378+145dup
NM_001005242.3:c.1378+141_1378+145dup MANE Select	NP_001005242.2:n.1378+141_1378+145dup
NM_004572.4:c.1378+141_1378+145dup	NP_004563.2:n.1378+141_1378+145dup