Canonical Allele Identifier: CA384362982

Gene: PKP2

Linked Data

• ClinVar Variation Id: 3224320
• ClinVar RCV Id: RCV004519046
• MyVariant Identifiers: chr12:g.32975461G>C (hg19) ; chr12:g.32822527G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822527G>C , CM000674.2:g.32822527G>C	GRCh38
NC_000012.11:g.32975461G>C , CM000674.1:g.32975461G>C	GRCh37
NC_000012.10:g.32866728G>C	NCBI36
NG_009000.1:g.79320C>G , LRG_398:g.79320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.291C>G
ENST00000700559.2:c.1779C>G	ENSP00000515065.2:p.Ile593Met
ENST00000700563.2:c.1779C>G	ENSP00000515066.2:p.Ile593Met
ENST00000546498.2:n.466C>G
ENST00000700555.1:c.219C>G	ENSP00000515062.1:p.Ile73Met
ENST00000700556.1:c.250C>G
ENST00000700559.1:c.994C>G
ENST00000700560.1:n.994C>G
ENST00000700561.1:n.1120C>G
ENST00000700563.1:c.1733C>G
ENST00000700564.1:n.1783C>G
ENST00000070846.11:c.1911C>G	ENSP00000070846.6:p.Ile637Met
ENST00000340811.9:c.1779C>G MANE Select	ENSP00000342800.5:p.Ile593Met
ENST00000070846.10:c.1911C>G	ENSP00000070846.6:p.Ile637Met
ENST00000340811.8:c.1779C>G	ENSP00000342800.4:p.Ile593Met
ENST00000546498.1:n.466C>G
ENST00000552612.5:n.200C>G
ENST00000613243.1:c.1911C>G	ENSP00000478295.1:p.Ile637Met
NM_001005242.2:c.1779C>G	NP_001005242.2:p.Ile593Met
NM_004572.3:c.1911C>G , LRG_398t1:c.1911C>G	NP_004563.2:p.Ile637Met
NM_001005242.3:c.1779C>G MANE Select	NP_001005242.2:p.Ile593Met
NM_004572.4:c.1911C>G	NP_004563.2:p.Ile637Met