Canonical Allele Identifier: CA2618226063

Gene: PKP2

Linked Data

• gnomAD v4: 12-32841328-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841328_32841329insT , CM000674.2:g.32841328_32841329insT	GRCh38
NC_000012.11:g.32994262_32994263insT , CM000674.1:g.32994262_32994263insT	GRCh37
NC_000012.10:g.32885529_32885530insT	NCBI36
NG_009000.1:g.60518_60519insA , LRG_398:g.60518_60519insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-124_1379-123insA	ENSP00000515065.2:n.1379-124_1379-123insA
ENST00000700563.2:c.1379-124_1379-123insA	ENSP00000515066.2:n.1379-124_1379-123insA
ENST00000700559.1:c.594-124_594-123insA
ENST00000700560.1:n.594-124_594-123insA
ENST00000700561.1:n.720-124_720-123insA
ENST00000700563.1:c.1333-124_1333-123insA
ENST00000700564.1:n.1383-124_1383-123insA
ENST00000700565.1:n.1232-124_1232-123insA
ENST00000070846.11:c.1511-124_1511-123insA	ENSP00000070846.6:n.1511-124_1511-123insA
ENST00000340811.9:c.1379-124_1379-123insA MANE Select	ENSP00000342800.5:n.1379-124_1379-123insA
ENST00000070846.10:c.1511-124_1511-123insA	ENSP00000070846.6:n.1511-124_1511-123insA
ENST00000340811.8:c.1379-124_1379-123insA	ENSP00000342800.4:n.1379-124_1379-123insA
ENST00000613243.1:c.1511-124_1511-123insA	ENSP00000478295.1:n.1511-124_1511-123insA
NM_001005242.2:c.1379-124_1379-123insA	NP_001005242.2:n.1379-124_1379-123insA
NM_004572.3:c.1511-124_1511-123insA , LRG_398t1:c.1511-124_1511-123insA	NP_004563.2:n.1511-124_1511-123insA
NM_001005242.3:c.1379-124_1379-123insA MANE Select	NP_001005242.2:n.1379-124_1379-123insA
NM_004572.4:c.1511-124_1511-123insA	NP_004563.2:n.1511-124_1511-123insA