Canonical Allele Identifier: CA2618226828

Gene: PKP2

Linked Data

• gnomAD v4: 12-32879023-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879026_32879028del , CM000674.2:g.32879026_32879028del	GRCh38
NC_000012.11:g.33031960_33031962del , CM000674.1:g.33031960_33031962del	GRCh37
NC_000012.10:g.32923227_32923229del	NCBI36
NG_009000.1:g.22821_22823del , LRG_398:g.22821_22823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.230_232del	ENSP00000515065.2:p.Leu77del
ENST00000700563.2:c.230_232del	ENSP00000515066.2:p.Leu77del
ENST00000700563.1:c.184_186del
ENST00000700564.1:n.234_236del
ENST00000700565.1:n.83_85del
ENST00000070846.11:c.230_232del	ENSP00000070846.6:p.Leu77del
ENST00000340811.9:c.230_232del MANE Select	ENSP00000342800.5:p.Leu77del
ENST00000070846.10:c.230_232del	ENSP00000070846.6:p.Leu77del
ENST00000340811.8:c.230_232del	ENSP00000342800.4:p.Leu77del
ENST00000613243.1:c.230_232del	ENSP00000478295.1:p.Leu77del
NM_001005242.2:c.230_232del	NP_001005242.2:p.Leu77del
NM_004572.3:c.230_232del , LRG_398t1:c.230_232del	NP_004563.2:p.Leu77del
NM_001005242.3:c.230_232del MANE Select	NP_001005242.2:p.Leu77del
NM_004572.4:c.230_232del	NP_004563.2:p.Leu77del