Canonical Allele Identifier: CA384363426

Gene: PKP2

Linked Data

• MyVariant Identifiers: chr12:g.32975529A>C (hg19) ; chr12:g.32822595A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822595A>C , CM000674.2:g.32822595A>C	GRCh38
NC_000012.11:g.32975529A>C , CM000674.1:g.32975529A>C	GRCh37
NC_000012.10:g.32866796A>C	NCBI36
NG_009000.1:g.79252T>G , LRG_398:g.79252T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.223T>G
ENST00000700559.2:c.1711T>G	ENSP00000515065.2:p.Ser571Ala
ENST00000700563.2:c.1711T>G	ENSP00000515066.2:p.Ser571Ala
ENST00000546498.2:n.398T>G
ENST00000700555.1:c.151T>G	ENSP00000515062.1:p.Ser51Ala
ENST00000700556.1:c.182T>G
ENST00000700559.1:c.926T>G
ENST00000700560.1:n.926T>G
ENST00000700561.1:n.1052T>G
ENST00000700563.1:c.1665T>G
ENST00000700564.1:n.1715T>G
ENST00000070846.11:c.1843T>G	ENSP00000070846.6:p.Ser615Ala
ENST00000340811.9:c.1711T>G MANE Select	ENSP00000342800.5:p.Ser571Ala
ENST00000070846.10:c.1843T>G	ENSP00000070846.6:p.Ser615Ala
ENST00000340811.8:c.1711T>G	ENSP00000342800.4:p.Ser571Ala
ENST00000546498.1:n.398T>G
ENST00000552612.5:n.132T>G
ENST00000613243.1:c.1843T>G	ENSP00000478295.1:p.Ser615Ala
NM_001005242.2:c.1711T>G	NP_001005242.2:p.Ser571Ala
NM_004572.3:c.1843T>G , LRG_398t1:c.1843T>G	NP_004563.2:p.Ser615Ala
NM_001005242.3:c.1711T>G MANE Select	NP_001005242.2:p.Ser571Ala
NM_004572.4:c.1843T>G	NP_004563.2:p.Ser615Ala