Canonical Allele Identifier: CA2618225975

Gene: PKP2

Linked Data

• gnomAD v4: 12-32841172-AGTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841175_32841178del , CM000674.2:g.32841175_32841178del	GRCh38
NC_000012.11:g.32994109_32994112del , CM000674.1:g.32994109_32994112del	GRCh37
NC_000012.10:g.32885376_32885379del	NCBI36
NG_009000.1:g.60671_60674del , LRG_398:g.60671_60674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1408_1411del	ENSP00000515065.2:p.Lys470SerfsTer5
ENST00000700563.2:c.1408_1411del	ENSP00000515066.2:p.Lys470SerfsTer5
ENST00000700559.1:c.623_626del
ENST00000700560.1:n.623_626del
ENST00000700561.1:n.749_752del
ENST00000700563.1:c.1362_1365del
ENST00000700564.1:n.1412_1415del
ENST00000700565.1:n.1261_1264del
ENST00000070846.11:c.1540_1543del	ENSP00000070846.6:p.Lys514SerfsTer5
ENST00000340811.9:c.1408_1411del MANE Select	ENSP00000342800.5:p.Lys470SerfsTer5
ENST00000070846.10:c.1540_1543del	ENSP00000070846.6:p.Lys514SerfsTer5
ENST00000340811.8:c.1408_1411del	ENSP00000342800.4:p.Lys470SerfsTer5
ENST00000613243.1:c.1540_1543del	ENSP00000478295.1:p.Lys514SerfsTer5
NM_001005242.2:c.1408_1411del	NP_001005242.2:p.Lys470SerfsTer5
NM_004572.3:c.1540_1543del , LRG_398t1:c.1540_1543del	NP_004563.2:p.Lys514SerfsTer5
NM_001005242.3:c.1408_1411del MANE Select	NP_001005242.2:p.Lys470SerfsTer5
NM_004572.4:c.1540_1543del	NP_004563.2:p.Lys514SerfsTer5