Canonical Allele Identifier: CA011478
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201996
ClinVar RCV Id: RCV000183758
dbSNP Id: rs794729111
MyVariant Identifiers: chr12:g.32975540A>C (hg19) chr12:g.32822606A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32822606A>C , CM000674.2:g.32822606A>C GRCh38
NC_000012.11:g.32975540A>C , CM000674.1:g.32975540A>C GRCh37
NC_000012.10:g.32866807A>C NCBI36
NG_009000.1:g.79241T>G , LRG_398:g.79241T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700555.2:n.212T>G
ENST00000700559.2:c.1700T>G ENSP00000515065.2:p.Leu567Arg
ENST00000700563.2:c.1700T>G ENSP00000515066.2:p.Leu567Arg
ENST00000546498.2:n.387T>G
ENST00000700555.1:c.140T>G ENSP00000515062.1:p.Leu47Arg
ENST00000700556.1:c.171T>G
ENST00000700559.1:c.915T>G
ENST00000700560.1:n.915T>G
ENST00000700561.1:n.1041T>G
ENST00000700563.1:c.1654T>G
ENST00000700564.1:n.1704T>G
ENST00000070846.11:c.1832T>G ENSP00000070846.6:p.Leu611Arg
ENST00000340811.9:c.1700T>G MANE Select ENSP00000342800.5:p.Leu567Arg
ENST00000070846.10:c.1832T>G ENSP00000070846.6:p.Leu611Arg
ENST00000340811.8:c.1700T>G ENSP00000342800.4:p.Leu567Arg
ENST00000546498.1:n.387T>G
ENST00000552612.5:n.121T>G
ENST00000613243.1:c.1832T>G ENSP00000478295.1:p.Leu611Arg
NM_001005242.2:c.1700T>G NP_001005242.2:p.Leu567Arg
NM_004572.3:c.1832T>G , LRG_398t1:c.1832T>G NP_004563.2:p.Leu611Arg
NM_001005242.3:c.1700T>G MANE Select NP_001005242.2:p.Leu567Arg
NM_004572.4:c.1832T>G NP_004563.2:p.Leu611Arg
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