Canonical Allele Identifier: CA035230

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1171737
• ClinVar RCV Id: RCV001525060 ; RCV002449353 ; RCV002506643 ; RCV004008816
• dbSNP Id: rs766775778
• ExAC: 12:32949083 C / T
• gnomAD v2: 12-32949083-C-T
• gnomAD v3: 12-32796149-C-T
• gnomAD v4: 12-32796149-C-T
• MyVariant Identifiers: chr12:g.32949083C>T (hg19) ; chr12:g.32796149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796149C>T , CM000674.2:g.32796149C>T	GRCh38
NC_000012.11:g.32949083C>T , CM000674.1:g.32949083C>T	GRCh37
NC_000012.10:g.32840350C>T	NCBI36
NG_009000.1:g.105698G>A , LRG_398:g.105698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.820G>A
ENST00000700557.2:n.409G>A
ENST00000700559.2:c.2168-3418G>A	ENSP00000515065.2:n.2168-3418G>A
ENST00000546498.2:n.1004G>A
ENST00000549461.2:n.809G>A
ENST00000700555.1:c.748G>A	ENSP00000515062.1:p.Gly250Arg
ENST00000700556.1:c.788G>A
ENST00000700557.1:c.328G>A	ENSP00000515064.1:p.Gly110Arg
ENST00000700558.1:n.531G>A
ENST00000700559.1:c.1383-3418G>A
ENST00000700560.1:n.1532G>A
ENST00000700561.1:n.1658G>A
ENST00000070846.11:c.2449G>A	ENSP00000070846.6:p.Gly817Arg
ENST00000340811.9:c.2317G>A MANE Select	ENSP00000342800.5:p.Gly773Arg
ENST00000070846.10:c.2449G>A	ENSP00000070846.6:p.Gly817Arg
ENST00000340811.8:c.2317G>A	ENSP00000342800.4:p.Gly773Arg
ENST00000613243.1:c.2447G>A	ENSP00000478295.1:p.Arg816Gln
NM_001005242.2:c.2317G>A	NP_001005242.2:p.Gly773Arg
NM_004572.3:c.2449G>A , LRG_398t1:c.2449G>A	NP_004563.2:p.Gly817Arg
NM_001005242.3:c.2317G>A MANE Select	NP_001005242.2:p.Gly773Arg
NM_004572.4:c.2449G>A	NP_004563.2:p.Gly817Arg