Canonical Allele Identifier: CA479176244

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1096826
• ClinVar RCV Id: RCV001418182
• dbSNP Id: rs767935208
• MyVariant Identifiers: chr12:g.32975431A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822497A>G , CM000674.2:g.32822497A>G	GRCh38
NC_000012.11:g.32975431A>G , CM000674.1:g.32975431A>G	GRCh37
NC_000012.10:g.32866698A>G	NCBI36
NG_009000.1:g.79350T>C , LRG_398:g.79350T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.321T>C
ENST00000700559.2:c.1809T>C	ENSP00000515065.2:p.Cys603=
ENST00000700563.2:c.1809T>C	ENSP00000515066.2:p.Cys603=
ENST00000546498.2:n.496T>C
ENST00000700555.1:c.249T>C	ENSP00000515062.1:p.Cys83=
ENST00000700556.1:c.280T>C
ENST00000700559.1:c.1024T>C
ENST00000700560.1:n.1024T>C
ENST00000700561.1:n.1150T>C
ENST00000700563.1:c.1763T>C
ENST00000700564.1:n.1813T>C
ENST00000070846.11:c.1941T>C	ENSP00000070846.6:p.Cys647=
ENST00000340811.9:c.1809T>C MANE Select	ENSP00000342800.5:p.Cys603=
ENST00000070846.10:c.1941T>C	ENSP00000070846.6:p.Cys647=
ENST00000340811.8:c.1809T>C	ENSP00000342800.4:p.Cys603=
ENST00000546498.1:n.496T>C
ENST00000552612.5:n.230T>C
ENST00000613243.1:c.1941T>C	ENSP00000478295.1:p.Cys647=
NM_001005242.2:c.1809T>C	NP_001005242.2:p.Cys603=
NM_004572.3:c.1941T>C , LRG_398t1:c.1941T>C	NP_004563.2:p.Cys647=
NM_001005242.3:c.1809T>C MANE Select	NP_001005242.2:p.Cys603=
NM_004572.4:c.1941T>C	NP_004563.2:p.Cys647=