Canonical Allele Identifier: CA384363688

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975564G>A (hg19) ; chr12:g.32822630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822630G>A , CM000674.2:g.32822630G>A	GRCh38
NC_000012.11:g.32975564G>A , CM000674.1:g.32975564G>A	GRCh37
NC_000012.10:g.32866831G>A	NCBI36
NG_009000.1:g.79217C>T , LRG_398:g.79217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.188C>T
ENST00000700559.2:c.1676C>T	ENSP00000515065.2:p.Ala559Val
ENST00000700563.2:c.1676C>T	ENSP00000515066.2:p.Ala559Val
ENST00000546498.2:n.363C>T
ENST00000700555.1:c.116C>T	ENSP00000515062.1:p.Ala39Val
ENST00000700556.1:c.147C>T
ENST00000700559.1:c.891C>T
ENST00000700560.1:n.891C>T
ENST00000700561.1:n.1017C>T
ENST00000700563.1:c.1630C>T
ENST00000700564.1:n.1680C>T
ENST00000070846.11:c.1808C>T	ENSP00000070846.6:p.Ala603Val
ENST00000340811.9:c.1676C>T MANE Select	ENSP00000342800.5:p.Ala559Val
ENST00000070846.10:c.1808C>T	ENSP00000070846.6:p.Ala603Val
ENST00000340811.8:c.1676C>T	ENSP00000342800.4:p.Ala559Val
ENST00000546498.1:n.363C>T
ENST00000552612.5:n.97C>T
ENST00000613243.1:c.1808C>T	ENSP00000478295.1:p.Ala603Val
NM_001005242.2:c.1676C>T	NP_001005242.2:p.Ala559Val
NM_004572.3:c.1808C>T , LRG_398t1:c.1808C>T	NP_004563.2:p.Ala603Val
NM_001005242.3:c.1676C>T MANE Select	NP_001005242.2:p.Ala559Val
NM_004572.4:c.1808C>T	NP_004563.2:p.Ala603Val