Canonical Allele Identifier: CA011392

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45046
• ClinVar RCV Id: RCV000038186 ; RCV000183792
• dbSNP Id: rs397517009
• MyVariant Identifiers: chr12:g.32977025del (hg19) ; chr12:g.32824091del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824091del , CM000674.2:g.32824091del	GRCh38
NC_000012.11:g.32977025del , CM000674.1:g.32977025del	GRCh37
NC_000012.10:g.32868292del	NCBI36
NG_009000.1:g.77756del , LRG_398:g.77756del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.140del
ENST00000700559.2:c.1628del	ENSP00000515065.2:p.Val543AlafsTer?
ENST00000700563.2:c.1628del	ENSP00000515066.2:p.Val543AlafsTer?
ENST00000546498.2:n.315del
ENST00000700555.1:c.68del	ENSP00000515062.1:p.Val23AlafsTer?
ENST00000700556.1:c.99del
ENST00000700559.1:c.843del
ENST00000700560.1:n.843del
ENST00000700561.1:n.969del
ENST00000700563.1:c.1582del
ENST00000700564.1:n.1632del
ENST00000070846.11:c.1760del	ENSP00000070846.6:p.Val587AlafsTer?
ENST00000340811.9:c.1628del MANE Select	ENSP00000342800.5:p.Val543AlafsTer?
ENST00000070846.10:c.1760del	ENSP00000070846.6:p.Val587AlafsTer?
ENST00000340811.8:c.1628del	ENSP00000342800.4:p.Val543AlafsTer?
ENST00000546498.1:n.315del
ENST00000552612.5:n.49del
ENST00000613243.1:c.1760del	ENSP00000478295.1:p.Val587AlafsTer?
NM_001005242.2:c.1628del	NP_001005242.2:p.Val543AlafsTer?
NM_004572.3:c.1760del , LRG_398t1:c.1760del	NP_004563.2:p.Val587AlafsTer?
NM_001005242.3:c.1628del MANE Select	NP_001005242.2:p.Val543AlafsTer?
NM_004572.4:c.1760del	NP_004563.2:p.Val587AlafsTer?