Canonical Allele Identifier: CA479176199

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2760824
• ClinVar RCV Id: RCV003507236
• COSMIC: COSM3460236
• MyVariant Identifiers: chr12:g.32974422G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821488G>A , CM000674.2:g.32821488G>A	GRCh38
NC_000012.11:g.32974422G>A , CM000674.1:g.32974422G>A	GRCh37
NC_000012.10:g.32865689G>A	NCBI36
NG_009000.1:g.80359C>T , LRG_398:g.80359C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.384C>T
ENST00000700559.2:c.1881C>T	ENSP00000515065.2:p.Pro627=
ENST00000700563.2:c.1881C>T	ENSP00000515066.2:p.Pro627=
ENST00000546498.2:n.568C>T
ENST00000549461.2:n.420C>T
ENST00000700555.1:c.312C>T	ENSP00000515062.1:p.Pro104=
ENST00000700556.1:c.352C>T
ENST00000700558.1:n.95C>T
ENST00000700559.1:c.1096C>T
ENST00000700560.1:n.1096C>T
ENST00000700561.1:n.1222C>T
ENST00000700562.1:n.419C>T
ENST00000700563.1:c.1835C>T
ENST00000700564.1:n.1885C>T
ENST00000070846.11:c.2013C>T	ENSP00000070846.6:p.Pro671=
ENST00000340811.9:c.1881C>T MANE Select	ENSP00000342800.5:p.Pro627=
ENST00000070846.10:c.2013C>T	ENSP00000070846.6:p.Pro671=
ENST00000340811.8:c.1881C>T	ENSP00000342800.4:p.Pro627=
ENST00000546498.1:n.568C>T
ENST00000549461.1:n.327C>T
ENST00000552612.5:n.302C>T
ENST00000613243.1:c.2013C>T	ENSP00000478295.1:p.Pro671=
NM_001005242.2:c.1881C>T	NP_001005242.2:p.Pro627=
NM_004572.3:c.2013C>T , LRG_398t1:c.2013C>T	NP_004563.2:p.Pro671=
NM_001005242.3:c.1881C>T MANE Select	NP_001005242.2:p.Pro627=
NM_004572.4:c.2013C>T	NP_004563.2:p.Pro671=