Canonical Allele Identifier: CA011161

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45031
• ClinVar RCV Id: RCV000038170 ; RCV001224029 ; RCV001183720 ; RCV001762117 ; RCV003996369
• dbSNP Id: rs397516998
• ExAC: 12:32994076 A / C
• gnomAD v2: 12-32994076-A-C
• gnomAD v3: 12-32841142-A-C
• gnomAD v4: 12-32841142-A-C
• MyVariant Identifiers: chr12:g.32994076A>C (hg19) ; chr12:g.32841142A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841142A>C , CM000674.2:g.32841142A>C	GRCh38
NC_000012.11:g.32994076A>C , CM000674.1:g.32994076A>C	GRCh37
NC_000012.10:g.32885343A>C	NCBI36
NG_009000.1:g.60705T>G , LRG_398:g.60705T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1442T>G	ENSP00000515065.2:p.Leu481Arg
ENST00000700563.2:c.1442T>G	ENSP00000515066.2:p.Leu481Arg
ENST00000700559.1:c.657T>G
ENST00000700560.1:n.657T>G
ENST00000700561.1:n.783T>G
ENST00000700563.1:c.1396T>G
ENST00000700564.1:n.1446T>G
ENST00000700565.1:n.1295T>G
ENST00000070846.11:c.1574T>G	ENSP00000070846.6:p.Leu525Arg
ENST00000340811.9:c.1442T>G MANE Select	ENSP00000342800.5:p.Leu481Arg
ENST00000070846.10:c.1574T>G	ENSP00000070846.6:p.Leu525Arg
ENST00000340811.8:c.1442T>G	ENSP00000342800.4:p.Leu481Arg
ENST00000613243.1:c.1574T>G	ENSP00000478295.1:p.Leu525Arg
NM_001005242.2:c.1442T>G	NP_001005242.2:p.Leu481Arg
NM_004572.3:c.1574T>G , LRG_398t1:c.1574T>G	NP_004563.2:p.Leu525Arg
NM_001005242.3:c.1442T>G MANE Select	NP_001005242.2:p.Leu481Arg
NM_004572.4:c.1574T>G	NP_004563.2:p.Leu525Arg