Canonical Allele Identifier: CA384362719

Gene: PKP2

Linked Data

• gnomAD v4: 12-32822496-A-T
• MyVariant Identifiers: chr12:g.32975430A>T (hg19) ; chr12:g.32822496A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822496A>T , CM000674.2:g.32822496A>T	GRCh38
NC_000012.11:g.32975430A>T , CM000674.1:g.32975430A>T	GRCh37
NC_000012.10:g.32866697A>T	NCBI36
NG_009000.1:g.79351T>A , LRG_398:g.79351T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.322T>A
ENST00000700559.2:c.1810T>A	ENSP00000515065.2:p.Phe604Ile
ENST00000700563.2:c.1810T>A	ENSP00000515066.2:p.Phe604Ile
ENST00000546498.2:n.497T>A
ENST00000700555.1:c.250T>A	ENSP00000515062.1:p.Phe84Ile
ENST00000700556.1:c.281T>A
ENST00000700559.1:c.1025T>A
ENST00000700560.1:n.1025T>A
ENST00000700561.1:n.1151T>A
ENST00000700563.1:c.1764T>A
ENST00000700564.1:n.1814T>A
ENST00000070846.11:c.1942T>A	ENSP00000070846.6:p.Phe648Ile
ENST00000340811.9:c.1810T>A MANE Select	ENSP00000342800.5:p.Phe604Ile
ENST00000070846.10:c.1942T>A	ENSP00000070846.6:p.Phe648Ile
ENST00000340811.8:c.1810T>A	ENSP00000342800.4:p.Phe604Ile
ENST00000546498.1:n.497T>A
ENST00000552612.5:n.231T>A
ENST00000613243.1:c.1942T>A	ENSP00000478295.1:p.Phe648Ile
NM_001005242.2:c.1810T>A	NP_001005242.2:p.Phe604Ile
NM_004572.3:c.1942T>A , LRG_398t1:c.1942T>A	NP_004563.2:p.Phe648Ile
NM_001005242.3:c.1810T>A MANE Select	NP_001005242.2:p.Phe604Ile
NM_004572.4:c.1942T>A	NP_004563.2:p.Phe648Ile