Canonical Allele Identifier: CA384362695

Gene: PKP2

Linked Data

• ClinVar Variation Id: 921566
• ClinVar RCV Id: RCV001181016
• dbSNP Id: rs1956389925
• MyVariant Identifiers: chr12:g.32975427C>G (hg19) ; chr12:g.32822493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822493C>G , CM000674.2:g.32822493C>G	GRCh38
NC_000012.11:g.32975427C>G , CM000674.1:g.32975427C>G	GRCh37
NC_000012.10:g.32866694C>G	NCBI36
NG_009000.1:g.79354G>C , LRG_398:g.79354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.325G>C
ENST00000700559.2:c.1813G>C	ENSP00000515065.2:p.Gly605Arg
ENST00000700563.2:c.1813G>C	ENSP00000515066.2:p.Gly605Arg
ENST00000546498.2:n.500G>C
ENST00000700555.1:c.253G>C	ENSP00000515062.1:p.Gly85Arg
ENST00000700556.1:c.284G>C
ENST00000700559.1:c.1028G>C
ENST00000700560.1:n.1028G>C
ENST00000700561.1:n.1154G>C
ENST00000700563.1:c.1767G>C
ENST00000700564.1:n.1817G>C
ENST00000070846.11:c.1945G>C	ENSP00000070846.6:p.Gly649Arg
ENST00000340811.9:c.1813G>C MANE Select	ENSP00000342800.5:p.Gly605Arg
ENST00000070846.10:c.1945G>C	ENSP00000070846.6:p.Gly649Arg
ENST00000340811.8:c.1813G>C	ENSP00000342800.4:p.Gly605Arg
ENST00000546498.1:n.500G>C
ENST00000552612.5:n.234G>C
ENST00000613243.1:c.1945G>C	ENSP00000478295.1:p.Gly649Arg
NM_001005242.2:c.1813G>C	NP_001005242.2:p.Gly605Arg
NM_004572.3:c.1945G>C , LRG_398t1:c.1945G>C	NP_004563.2:p.Gly649Arg
NM_001005242.3:c.1813G>C MANE Select	NP_001005242.2:p.Gly605Arg
NM_004572.4:c.1945G>C	NP_004563.2:p.Gly649Arg