Canonical Allele Identifier: CA915940300

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802556del , CM000674.2:g.32802556del	GRCh38
NC_000012.11:g.32955490del , CM000674.1:g.32955490del	GRCh37
NC_000012.10:g.32846757del	NCBI36
NG_009000.1:g.99291del , LRG_398:g.99291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.517del
ENST00000700557.2:n.106del
ENST00000700559.2:c.2014del	ENSP00000515065.2:p.Met672CysfsTer30
ENST00000546498.2:n.701del
ENST00000549461.2:n.553del
ENST00000700555.1:c.445del	ENSP00000515062.1:p.Met149CysfsTer30
ENST00000700556.1:c.485del
ENST00000700557.1:c.25del	ENSP00000515064.1:p.Met9CysfsTer30
ENST00000700558.1:n.228del
ENST00000700559.1:c.1229del
ENST00000700560.1:n.1229del
ENST00000700561.1:n.1355del
ENST00000070846.11:c.2146del	ENSP00000070846.6:p.Met716CysfsTer30
ENST00000340811.9:c.2014del MANE Select	ENSP00000342800.5:p.Met672CysfsTer30
ENST00000070846.10:c.2146del	ENSP00000070846.6:p.Met716CysfsTer30
ENST00000340811.8:c.2014del	ENSP00000342800.4:p.Met672CysfsTer30
ENST00000549461.1:n.460del
ENST00000613243.1:c.2146del	ENSP00000478295.1:p.Met716CysfsTer30
NM_001005242.2:c.2014del	NP_001005242.2:p.Met672CysfsTer30
NM_004572.3:c.2146del , LRG_398t1:c.2146del	NP_004563.2:p.Met716CysfsTer30
NM_001005242.3:c.2014del MANE Select	NP_001005242.2:p.Met672CysfsTer30
NM_004572.4:c.2146del	NP_004563.2:p.Met716CysfsTer30