Canonical Allele Identifier: CA012137
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201967
ClinVar RCV Id: RCV000183718
dbSNP Id: rs794729100
MyVariant Identifiers: chr12:g.32945624A>G (hg19) chr12:g.32792690A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32792690A>G , CM000674.2:g.32792690A>G GRCh38
NC_000012.11:g.32945624A>G , CM000674.1:g.32945624A>G GRCh37
NC_000012.10:g.32836891A>G NCBI36
NG_009000.1:g.109157T>C , LRG_398:g.109157T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700555.2:n.902T>C
ENST00000700557.2:n.491T>C
ENST00000700559.2:c.2209T>C ENSP00000515065.2:p.Cys737Arg
ENST00000546498.2:n.1086T>C
ENST00000549461.2:n.891T>C
ENST00000700555.1:c.830T>C ENSP00000515062.1:p.Leu277Pro
ENST00000700556.1:c.870T>C
ENST00000700557.1:c.410T>C ENSP00000515064.1:p.Leu137Pro
ENST00000700558.1:n.613T>C
ENST00000700559.1:c.1424T>C
ENST00000700560.1:n.1614T>C
ENST00000070846.11:c.2531T>C ENSP00000070846.6:p.Leu844Pro
ENST00000340811.9:c.2399T>C MANE Select ENSP00000342800.5:p.Leu800Pro
ENST00000070846.10:c.2531T>C ENSP00000070846.6:p.Leu844Pro
ENST00000340811.8:c.2399T>C ENSP00000342800.4:p.Leu800Pro
ENST00000546769.1:n.186T>C
ENST00000613243.1:c.2529T>C ENSP00000478295.1:n.2529T>C
NM_001005242.2:c.2399T>C NP_001005242.2:p.Leu800Pro
NM_004572.3:c.2531T>C , LRG_398t1:c.2531T>C NP_004563.2:p.Leu844Pro
NM_001005242.3:c.2399T>C MANE Select NP_001005242.2:p.Leu800Pro
NM_004572.4:c.2531T>C NP_004563.2:p.Leu844Pro
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