Canonical Allele Identifier: CA13585715

Gene: PKP2

Linked Data

• ClinVar Variation Id: 672154
• ClinVar RCV Id: RCV000831377
• dbSNP Id: rs1869652
• gnomAD v2: 12-32975760-A-G
• gnomAD v3: 12-32822826-A-G
• gnomAD v4: 12-32822826-A-G
• MyVariant Identifiers: chr12:g.32975760A>G (hg19) ; chr12:g.32822826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822826A>G , CM000674.2:g.32822826A>G	GRCh38
NC_000012.11:g.32975760A>G , CM000674.1:g.32975760A>G	GRCh37
NC_000012.10:g.32867027A>G	NCBI36
NG_009000.1:g.79021T>C , LRG_398:g.79021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-195T>C
ENST00000700559.2:c.1675-195T>C	ENSP00000515065.2:n.1675-195T>C
ENST00000700563.2:c.1675-195T>C	ENSP00000515066.2:n.1675-195T>C
ENST00000546498.2:n.362-195T>C
ENST00000700555.1:c.115-195T>C	ENSP00000515062.1:n.115-195T>C
ENST00000700556.1:c.146-195T>C
ENST00000700559.1:c.890-195T>C
ENST00000700560.1:n.890-195T>C
ENST00000700561.1:n.1016-195T>C
ENST00000700563.1:c.1629-195T>C
ENST00000700564.1:n.1679-195T>C
ENST00000070846.11:c.1807-195T>C	ENSP00000070846.6:n.1807-195T>C
ENST00000340811.9:c.1675-195T>C MANE Select	ENSP00000342800.5:n.1675-195T>C
ENST00000070846.10:c.1807-195T>C	ENSP00000070846.6:n.1807-195T>C
ENST00000340811.8:c.1675-195T>C	ENSP00000342800.4:n.1675-195T>C
ENST00000546498.1:n.362-195T>C
ENST00000552612.5:n.96-195T>C
ENST00000613243.1:c.1807-195T>C	ENSP00000478295.1:n.1807-195T>C
NM_001005242.2:c.1675-195T>C	NP_001005242.2:n.1675-195T>C
NM_004572.3:c.1807-195T>C , LRG_398t1:c.1807-195T>C	NP_004563.2:n.1807-195T>C
NM_001005242.3:c.1675-195T>C MANE Select	NP_001005242.2:n.1675-195T>C
NM_004572.4:c.1807-195T>C	NP_004563.2:n.1807-195T>C