Canonical Allele Identifier: CA479174743

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2774080
• ClinVar RCV Id: RCV003532761
• gnomAD v4: 12-32802413-C-T
• MyVariant Identifiers: chr12:g.32955347C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802413C>T , CM000674.2:g.32802413C>T	GRCh38
NC_000012.11:g.32955347C>T , CM000674.1:g.32955347C>T	GRCh37
NC_000012.10:g.32846614C>T	NCBI36
NG_009000.1:g.99434G>A , LRG_398:g.99434G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.660G>A
ENST00000700557.2:n.249G>A
ENST00000700559.2:c.2157G>A	ENSP00000515065.2:p.Gln719=
ENST00000546498.2:n.844G>A
ENST00000549461.2:n.659+37G>A
ENST00000700555.1:c.588G>A	ENSP00000515062.1:p.Gln196=
ENST00000700556.1:c.628G>A
ENST00000700557.1:c.168G>A	ENSP00000515064.1:p.Gln56=
ENST00000700558.1:n.371G>A
ENST00000700559.1:c.1372G>A
ENST00000700560.1:n.1372G>A
ENST00000700561.1:n.1498G>A
ENST00000070846.11:c.2289G>A	ENSP00000070846.6:p.Gln763=
ENST00000340811.9:c.2157G>A MANE Select	ENSP00000342800.5:p.Gln719=
ENST00000070846.10:c.2289G>A	ENSP00000070846.6:p.Gln763=
ENST00000340811.8:c.2157G>A	ENSP00000342800.4:p.Gln719=
ENST00000613243.1:c.2289G>A	ENSP00000478295.1:p.Gln763=
NM_001005242.2:c.2157G>A	NP_001005242.2:p.Gln719=
NM_004572.3:c.2289G>A , LRG_398t1:c.2289G>A	NP_004563.2:p.Gln763=
NM_001005242.3:c.2157G>A MANE Select	NP_001005242.2:p.Gln719=
NM_004572.4:c.2289G>A	NP_004563.2:p.Gln763=