Canonical Allele Identifier: CA2539002913

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841327_32841328insT , CM000674.2:g.32841327_32841328insT	GRCh38
NC_000012.11:g.32994261_32994262insT , CM000674.1:g.32994261_32994262insT	GRCh37
NC_000012.10:g.32885528_32885529insT	NCBI36
NG_009000.1:g.60519_60520insA , LRG_398:g.60519_60520insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-123_1379-122insA	ENSP00000515065.2:n.1379-123_1379-122insA
ENST00000700563.2:c.1379-123_1379-122insA	ENSP00000515066.2:n.1379-123_1379-122insA
ENST00000700559.1:c.594-123_594-122insA
ENST00000700560.1:n.594-123_594-122insA
ENST00000700561.1:n.720-123_720-122insA
ENST00000700563.1:c.1333-123_1333-122insA
ENST00000700564.1:n.1383-123_1383-122insA
ENST00000700565.1:n.1232-123_1232-122insA
ENST00000070846.11:c.1511-123_1511-122insA	ENSP00000070846.6:n.1511-123_1511-122insA
ENST00000340811.9:c.1379-123_1379-122insA MANE Select	ENSP00000342800.5:n.1379-123_1379-122insA
ENST00000070846.10:c.1511-123_1511-122insA	ENSP00000070846.6:n.1511-123_1511-122insA
ENST00000340811.8:c.1379-123_1379-122insA	ENSP00000342800.4:n.1379-123_1379-122insA
ENST00000613243.1:c.1511-123_1511-122insA	ENSP00000478295.1:n.1511-123_1511-122insA
NM_001005242.2:c.1379-123_1379-122insA	NP_001005242.2:n.1379-123_1379-122insA
NM_004572.3:c.1511-123_1511-122insA , LRG_398t1:c.1511-123_1511-122insA	NP_004563.2:n.1511-123_1511-122insA
NM_001005242.3:c.1379-123_1379-122insA MANE Select	NP_001005242.2:n.1379-123_1379-122insA
NM_004572.4:c.1511-123_1511-122insA	NP_004563.2:n.1511-123_1511-122insA