Canonical Allele Identifier: CA384363215

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975494A>T (hg19) ; chr12:g.32822560A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822560A>T , CM000674.2:g.32822560A>T	GRCh38
NC_000012.11:g.32975494A>T , CM000674.1:g.32975494A>T	GRCh37
NC_000012.10:g.32866761A>T	NCBI36
NG_009000.1:g.79287T>A , LRG_398:g.79287T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.258T>A
ENST00000700559.2:c.1746T>A	ENSP00000515065.2:p.Tyr582Ter
ENST00000700563.2:c.1746T>A	ENSP00000515066.2:p.Tyr582Ter
ENST00000546498.2:n.433T>A
ENST00000700555.1:c.186T>A	ENSP00000515062.1:p.Tyr62Ter
ENST00000700556.1:c.217T>A
ENST00000700559.1:c.961T>A
ENST00000700560.1:n.961T>A
ENST00000700561.1:n.1087T>A
ENST00000700563.1:c.1700T>A
ENST00000700564.1:n.1750T>A
ENST00000070846.11:c.1878T>A	ENSP00000070846.6:p.Tyr626Ter
ENST00000340811.9:c.1746T>A MANE Select	ENSP00000342800.5:p.Tyr582Ter
ENST00000070846.10:c.1878T>A	ENSP00000070846.6:p.Tyr626Ter
ENST00000340811.8:c.1746T>A	ENSP00000342800.4:p.Tyr582Ter
ENST00000546498.1:n.433T>A
ENST00000552612.5:n.167T>A
ENST00000613243.1:c.1878T>A	ENSP00000478295.1:p.Tyr626Ter
NM_001005242.2:c.1746T>A	NP_001005242.2:p.Tyr582Ter
NM_004572.3:c.1878T>A , LRG_398t1:c.1878T>A	NP_004563.2:p.Tyr626Ter
NM_001005242.3:c.1746T>A MANE Select	NP_001005242.2:p.Tyr582Ter
NM_004572.4:c.1878T>A	NP_004563.2:p.Tyr626Ter