Canonical Allele Identifier: CA479177936

Gene: PKP2

Linked Data

• ClinVar Variation Id: 496254
• ClinVar RCV Id: RCV000589635
• dbSNP Id: rs1555145513
• MyVariant Identifiers: chr12:g.33003833C>T (hg19) ; chr12:g.32850899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850899C>T , CM000674.2:g.32850899C>T	GRCh38
NC_000012.11:g.33003833C>T , CM000674.1:g.33003833C>T	GRCh37
NC_000012.10:g.32895100C>T	NCBI36
NG_009000.1:g.50948G>A , LRG_398:g.50948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1245G>A	ENSP00000515065.2:p.Val415=
ENST00000700563.2:c.1245G>A	ENSP00000515066.2:p.Val415=
ENST00000700559.1:c.460G>A
ENST00000700560.1:n.460G>A
ENST00000700561.1:n.586G>A
ENST00000700563.1:c.1199G>A
ENST00000700564.1:n.1249G>A
ENST00000700565.1:n.1098G>A
ENST00000070846.11:c.1245G>A	ENSP00000070846.6:p.Val415=
ENST00000340811.9:c.1245G>A MANE Select	ENSP00000342800.5:p.Val415=
ENST00000070846.10:c.1245G>A	ENSP00000070846.6:p.Val415=
ENST00000340811.8:c.1245G>A	ENSP00000342800.4:p.Val415=
ENST00000613243.1:c.1245G>A	ENSP00000478295.1:p.Val415=
NM_001005242.2:c.1245G>A	NP_001005242.2:p.Val415=
NM_004572.3:c.1245G>A , LRG_398t1:c.1245G>A	NP_004563.2:p.Val415=
NM_001005242.3:c.1245G>A MANE Select	NP_001005242.2:p.Val415=
NM_004572.4:c.1245G>A	NP_004563.2:p.Val415=