Canonical Allele Identifier: CA384362585

Gene: PKP2

Linked Data

• dbSNP Id: rs1592737774
• MyVariant Identifiers: chr12:g.32975408A>C (hg19) ; chr12:g.32822474A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822474A>C , CM000674.2:g.32822474A>C	GRCh38
NC_000012.11:g.32975408A>C , CM000674.1:g.32975408A>C	GRCh37
NC_000012.10:g.32866675A>C	NCBI36
NG_009000.1:g.79373T>G , LRG_398:g.79373T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.342+2T>G
ENST00000700559.2:c.1832T>G	ENSP00000515065.2:p.Val611Gly
ENST00000700563.2:c.1832T>G	ENSP00000515066.2:p.Val611Gly
ENST00000546498.2:n.519T>G
ENST00000700555.1:c.270+2T>G	ENSP00000515062.1:n.270+2T>G
ENST00000700556.1:c.303T>G
ENST00000700559.1:c.1047T>G
ENST00000700560.1:n.1047T>G
ENST00000700561.1:n.1173T>G
ENST00000700563.1:c.1786T>G
ENST00000700564.1:n.1836T>G
ENST00000070846.11:c.1964T>G	ENSP00000070846.6:p.Val655Gly
ENST00000340811.9:c.1832T>G MANE Select	ENSP00000342800.5:p.Val611Gly
ENST00000070846.10:c.1964T>G	ENSP00000070846.6:p.Val655Gly
ENST00000340811.8:c.1832T>G	ENSP00000342800.4:p.Val611Gly
ENST00000546498.1:n.519T>G
ENST00000552612.5:n.253T>G
ENST00000613243.1:c.1964T>G	ENSP00000478295.1:p.Val655Gly
NM_001005242.2:c.1832T>G	NP_001005242.2:p.Val611Gly
NM_004572.3:c.1964T>G , LRG_398t1:c.1964T>G	NP_004563.2:p.Val655Gly
NM_001005242.3:c.1832T>G MANE Select	NP_001005242.2:p.Val611Gly
NM_004572.4:c.1964T>G	NP_004563.2:p.Val655Gly