Canonical Allele Identifier: CA2580085414

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802485_32802486del , CM000674.2:g.32802485_32802486del	GRCh38
NC_000012.11:g.32955419_32955420del , CM000674.1:g.32955419_32955420del	GRCh37
NC_000012.10:g.32846686_32846687del	NCBI36
NG_009000.1:g.99361_99362del , LRG_398:g.99361_99362del

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.2084_2085del MANE Select	NP_001005242.2:p.His695ArgfsTer3
ENST00000340811.9:c.2084_2085del MANE Select	ENSP00000342800.5:p.His695ArgfsTer3
NM_001005242.2:c.2084_2085del	NP_001005242.2:p.His695ArgfsTer3
NM_004572.3:c.2216_2217del , LRG_398t1:c.2216_2217del	NP_004563.2:p.His739ArgfsTer3
NM_004572.4:c.2216_2217del	NP_004563.2:p.His739ArgfsTer3
ENST00000070846.10:c.2216_2217del	ENSP00000070846.6:p.His739ArgfsTer3
ENST00000070846.11:c.2216_2217del	ENSP00000070846.6:p.His739ArgfsTer3
ENST00000340811.8:c.2084_2085del	ENSP00000342800.4:p.His695ArgfsTer3
ENST00000546498.2:n.771_772del
ENST00000549461.1:n.530_531del
ENST00000549461.2:n.623_624del
ENST00000613243.1:c.2216_2217del	ENSP00000478295.1:p.His739ArgfsTer3
ENST00000700555.1:c.515_516del	ENSP00000515062.1:p.His172ArgfsTer3
ENST00000700555.2:n.587_588del
ENST00000700556.1:c.555_556del
ENST00000700557.1:c.95_96del	ENSP00000515064.1:p.His32ArgfsTer3
ENST00000700557.2:n.176_177del
ENST00000700558.1:n.298_299del
ENST00000700559.1:c.1299_1300del
ENST00000700559.2:c.2084_2085del	ENSP00000515065.2:p.His695ArgfsTer3
ENST00000700560.1:n.1299_1300del
ENST00000700561.1:n.1425_1426del