Canonical Allele Identifier: CA16613730

Gene: PKP2

Linked Data

• ClinVar Variation Id: 406548
• ClinVar RCV Id: RCV002411440
• dbSNP Id: rs1060501183
• gnomAD v3: 12-32822546-T-C
• gnomAD v4: 12-32822546-T-C
• MyVariant Identifiers: chr12:g.32975480T>C (hg19) ; chr12:g.32822546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822546T>C , CM000674.2:g.32822546T>C	GRCh38
NC_000012.11:g.32975480T>C , CM000674.1:g.32975480T>C	GRCh37
NC_000012.10:g.32866747T>C	NCBI36
NG_009000.1:g.79301A>G , LRG_398:g.79301A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.272A>G
ENST00000700559.2:c.1760A>G	ENSP00000515065.2:p.Tyr587Cys
ENST00000700563.2:c.1760A>G	ENSP00000515066.2:p.Tyr587Cys
ENST00000546498.2:n.447A>G
ENST00000700555.1:c.200A>G	ENSP00000515062.1:p.Tyr67Cys
ENST00000700556.1:c.231A>G
ENST00000700559.1:c.975A>G
ENST00000700560.1:n.975A>G
ENST00000700561.1:n.1101A>G
ENST00000700563.1:c.1714A>G
ENST00000700564.1:n.1764A>G
ENST00000070846.11:c.1892A>G	ENSP00000070846.6:p.Tyr631Cys
ENST00000340811.9:c.1760A>G MANE Select	ENSP00000342800.5:p.Tyr587Cys
ENST00000070846.10:c.1892A>G	ENSP00000070846.6:p.Tyr631Cys
ENST00000340811.8:c.1760A>G	ENSP00000342800.4:p.Tyr587Cys
ENST00000546498.1:n.447A>G
ENST00000552612.5:n.181A>G
ENST00000613243.1:c.1892A>G	ENSP00000478295.1:p.Tyr631Cys
NM_001005242.2:c.1760A>G	NP_001005242.2:p.Tyr587Cys
NM_004572.3:c.1892A>G , LRG_398t1:c.1892A>G	NP_004563.2:p.Tyr631Cys
NM_001005242.3:c.1760A>G MANE Select	NP_001005242.2:p.Tyr587Cys
NM_004572.4:c.1892A>G	NP_004563.2:p.Tyr631Cys