Canonical Allele Identifier: CA10641079

Gene: PKP2

Linked Data

• ClinVar Variation Id: 308499
• ClinVar RCV Id: RCV000275028
• dbSNP Id: rs886049318
• gnomAD v3: 12-32792209-C-T
• gnomAD v4: 12-32792209-C-T
• MyVariant Identifiers: chr12:g.32945143C>T (hg19) ; chr12:g.32792209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792209C>T , CM000674.2:g.32792209C>T	GRCh38
NC_000012.11:g.32945143C>T , CM000674.1:g.32945143C>T	GRCh37
NC_000012.10:g.32836410C>T	NCBI36
NG_009000.1:g.109638G>A , LRG_398:g.109638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1232G>A
ENST00000700557.2:n.821G>A
ENST00000700559.2:c.*70G>A	ENSP00000515065.2:n.*70G>A
ENST00000546498.2:n.1416G>A
ENST00000549461.2:n.1221G>A
ENST00000700555.1:c.*215G>A	ENSP00000515062.1:n.*215G>A
ENST00000700556.1:c.1200G>A
ENST00000700557.1:c.*215G>A	ENSP00000515064.1:n.*215G>A
ENST00000700558.1:n.943G>A
ENST00000700559.1:c.1754G>A
ENST00000700560.1:n.2095G>A
ENST00000070846.11:c.*215G>A	ENSP00000070846.6:n.*215G>A
ENST00000340811.9:c.*215G>A MANE Select	ENSP00000342800.5:n.*215G>A
ENST00000070846.10:c.*215G>A	ENSP00000070846.6:n.*215G>A
ENST00000340811.8:c.*215G>A	ENSP00000342800.4:n.*215G>A
ENST00000546769.1:n.516G>A
NM_001005242.2:c.*215G>A	NP_001005242.2:n.*215G>A
NM_004572.3:c.*215G>A , LRG_398t1:c.*215G>A	NP_004563.2:n.*215G>A
NM_001005242.3:c.*215G>A MANE Select	NP_001005242.2:n.*215G>A
NM_004572.4:c.*215G>A	NP_004563.2:n.*215G>A