Canonical Allele Identifier: CA384363536

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975542A>C (hg19) ; chr12:g.32822608A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822608A>C , CM000674.2:g.32822608A>C	GRCh38
NC_000012.11:g.32975542A>C , CM000674.1:g.32975542A>C	GRCh37
NC_000012.10:g.32866809A>C	NCBI36
NG_009000.1:g.79239T>G , LRG_398:g.79239T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.210T>G
ENST00000700559.2:c.1698T>G	ENSP00000515065.2:p.Ile566Met
ENST00000700563.2:c.1698T>G	ENSP00000515066.2:p.Ile566Met
ENST00000546498.2:n.385T>G
ENST00000700555.1:c.138T>G	ENSP00000515062.1:p.Ile46Met
ENST00000700556.1:c.169T>G
ENST00000700559.1:c.913T>G
ENST00000700560.1:n.913T>G
ENST00000700561.1:n.1039T>G
ENST00000700563.1:c.1652T>G
ENST00000700564.1:n.1702T>G
ENST00000070846.11:c.1830T>G	ENSP00000070846.6:p.Ile610Met
ENST00000340811.9:c.1698T>G MANE Select	ENSP00000342800.5:p.Ile566Met
ENST00000070846.10:c.1830T>G	ENSP00000070846.6:p.Ile610Met
ENST00000340811.8:c.1698T>G	ENSP00000342800.4:p.Ile566Met
ENST00000546498.1:n.385T>G
ENST00000552612.5:n.119T>G
ENST00000613243.1:c.1830T>G	ENSP00000478295.1:p.Ile610Met
NM_001005242.2:c.1698T>G	NP_001005242.2:p.Ile566Met
NM_004572.3:c.1830T>G , LRG_398t1:c.1830T>G	NP_004563.2:p.Ile610Met
NM_001005242.3:c.1698T>G MANE Select	NP_001005242.2:p.Ile566Met
NM_004572.4:c.1830T>G	NP_004563.2:p.Ile610Met