Canonical Allele Identifier: CA235238150

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2725036
• ClinVar RCV Id: RCV003508562
• dbSNP Id: rs1056066633
• gnomAD v3: 12-32821513-G-T
• gnomAD v4: 12-32821513-G-T
• MyVariant Identifiers: chr12:g.32974447G>T (hg19) ; chr12:g.32821513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821513G>T , CM000674.2:g.32821513G>T	GRCh38
NC_000012.11:g.32974447G>T , CM000674.1:g.32974447G>T	GRCh37
NC_000012.10:g.32865714G>T	NCBI36
NG_009000.1:g.80334C>A , LRG_398:g.80334C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.359C>A
ENST00000700559.2:c.1856C>A	ENSP00000515065.2:p.Pro619Gln
ENST00000700563.2:c.1856C>A	ENSP00000515066.2:p.Pro619Gln
ENST00000546498.2:n.543C>A
ENST00000549461.2:n.395C>A
ENST00000700555.1:c.287C>A	ENSP00000515062.1:p.Pro96Gln
ENST00000700556.1:c.327C>A
ENST00000700558.1:n.70C>A
ENST00000700559.1:c.1071C>A
ENST00000700560.1:n.1071C>A
ENST00000700561.1:n.1197C>A
ENST00000700562.1:n.394C>A
ENST00000700563.1:c.1810C>A
ENST00000700564.1:n.1860C>A
ENST00000070846.11:c.1988C>A	ENSP00000070846.6:p.Pro663Gln
ENST00000340811.9:c.1856C>A MANE Select	ENSP00000342800.5:p.Pro619Gln
ENST00000070846.10:c.1988C>A	ENSP00000070846.6:p.Pro663Gln
ENST00000340811.8:c.1856C>A	ENSP00000342800.4:p.Pro619Gln
ENST00000546498.1:n.543C>A
ENST00000549461.1:n.302C>A
ENST00000552612.5:n.277C>A
ENST00000613243.1:c.1988C>A	ENSP00000478295.1:p.Pro663Gln
NM_001005242.2:c.1856C>A	NP_001005242.2:p.Pro619Gln
NM_004572.3:c.1988C>A , LRG_398t1:c.1988C>A	NP_004563.2:p.Pro663Gln
NM_001005242.3:c.1856C>A MANE Select	NP_001005242.2:p.Pro619Gln
NM_004572.4:c.1988C>A	NP_004563.2:p.Pro663Gln