Canonical Allele Identifier: CA012097

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45071
• ClinVar RCV Id: RCV000038212 ; RCV000183715 ; RCV001262835
• dbSNP Id: rs111517471
• MyVariant Identifiers: chr12:g.32949042C>A (hg19) ; chr12:g.32796108C>A (hg38)
• PubMed: PMID:20031617

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796108C>A , CM000674.2:g.32796108C>A	GRCh38
NC_000012.11:g.32949042C>A , CM000674.1:g.32949042C>A	GRCh37
NC_000012.10:g.32840309C>A	NCBI36
NG_009000.1:g.105739G>T , LRG_398:g.105739G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.860+1G>T
ENST00000700557.2:n.449+1G>T
ENST00000700559.2:c.2168-3377G>T	ENSP00000515065.2:n.2168-3377G>T
ENST00000546498.2:n.1044+1G>T
ENST00000549461.2:n.849+1G>T
ENST00000700555.1:c.788+1G>T	ENSP00000515062.1:n.788+1G>T
ENST00000700556.1:c.828+1G>T
ENST00000700557.1:c.368+1G>T	ENSP00000515064.1:n.368+1G>T
ENST00000700558.1:n.571+1G>T
ENST00000700559.1:c.1383-3377G>T
ENST00000700560.1:n.1572+1G>T
ENST00000700561.1:n.1699G>T
ENST00000070846.11:c.2489+1G>T	ENSP00000070846.6:n.2489+1G>T
ENST00000340811.9:c.2357+1G>T MANE Select	ENSP00000342800.5:n.2357+1G>T
ENST00000070846.10:c.2489+1G>T	ENSP00000070846.6:n.2489+1G>T
ENST00000340811.8:c.2357+1G>T	ENSP00000342800.4:n.2357+1G>T
ENST00000613243.1:c.2487+1G>T	ENSP00000478295.1:n.2487+1G>T
NM_001005242.2:c.2357+1G>T	NP_001005242.2:n.2357+1G>T
NM_004572.3:c.2489+1G>T , LRG_398t1:c.2489+1G>T	NP_004563.2:n.2489+1G>T
NM_001005242.3:c.2357+1G>T MANE Select	NP_001005242.2:n.2357+1G>T
NM_004572.4:c.2489+1G>T	NP_004563.2:n.2489+1G>T