Canonical Allele Identifier: CA10641053

Gene: PKP2

Linked Data

• ClinVar Variation Id: 308469
• ClinVar RCV Id: RCV000352698
• dbSNP Id: rs1046150
• gnomAD v2: 12-32943927-C-T
• gnomAD v3: 12-32790993-C-T
• gnomAD v4: 12-32790993-C-T
• MyVariant Identifiers: chr12:g.32943927C>T (hg19) ; chr12:g.32790993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32790993C>T , CM000674.2:g.32790993C>T	GRCh38
NC_000012.11:g.32943927C>T , CM000674.1:g.32943927C>T	GRCh37
NC_000012.10:g.32835194C>T	NCBI36
NG_009000.1:g.110854G>A , LRG_398:g.110854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.2448G>A
ENST00000700559.2:c.*1286G>A	ENSP00000515065.2:n.*1286G>A
ENST00000549461.2:n.2437G>A
ENST00000700555.1:c.*1431G>A	ENSP00000515062.1:n.*1431G>A
ENST00000700556.1:c.2416G>A
ENST00000070846.11:c.*1431G>A	ENSP00000070846.6:n.*1431G>A
ENST00000340811.9:c.*1431G>A MANE Select	ENSP00000342800.5:n.*1431G>A
ENST00000070846.10:c.*1431G>A	ENSP00000070846.6:n.*1431G>A
ENST00000340811.8:c.*1431G>A	ENSP00000342800.4:n.*1431G>A
NM_001005242.2:c.*1431G>A	NP_001005242.2:n.*1431G>A
NM_004572.3:c.*1431G>A , LRG_398t1:c.*1431G>A	NP_004563.2:n.*1431G>A
NM_001005242.3:c.*1431G>A MANE Select	NP_001005242.2:n.*1431G>A
NM_004572.4:c.*1431G>A	NP_004563.2:n.*1431G>A