Canonical Allele Identifier: CA384359150

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1517644
• ClinVar RCV Id: RCV002027505
• dbSNP Id: rs1442934924
• gnomAD v2: 12-32955338-A-C
• gnomAD v4: 12-32802404-A-C
• MyVariant Identifiers: chr12:g.32955338A>C (hg19) ; chr12:g.32802404A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802404A>C , CM000674.2:g.32802404A>C	GRCh38
NC_000012.11:g.32955338A>C , CM000674.1:g.32955338A>C	GRCh37
NC_000012.10:g.32846605A>C	NCBI36
NG_009000.1:g.99443T>G , LRG_398:g.99443T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.669T>G
ENST00000700557.2:n.258T>G
ENST00000700559.2:c.2166T>G	ENSP00000515065.2:p.Ile722Met
ENST00000546498.2:n.853T>G
ENST00000549461.2:n.659+46T>G
ENST00000700555.1:c.597T>G	ENSP00000515062.1:p.Ile199Met
ENST00000700556.1:c.637T>G
ENST00000700557.1:c.177T>G	ENSP00000515064.1:p.Ile59Met
ENST00000700558.1:n.380T>G
ENST00000700559.1:c.1381T>G
ENST00000700560.1:n.1381T>G
ENST00000700561.1:n.1507T>G
ENST00000070846.11:c.2298T>G	ENSP00000070846.6:p.Ile766Met
ENST00000340811.9:c.2166T>G MANE Select	ENSP00000342800.5:p.Ile722Met
ENST00000070846.10:c.2298T>G	ENSP00000070846.6:p.Ile766Met
ENST00000340811.8:c.2166T>G	ENSP00000342800.4:p.Ile722Met
ENST00000613243.1:c.2298T>G	ENSP00000478295.1:p.Ile766Met
NM_001005242.2:c.2166T>G	NP_001005242.2:p.Ile722Met
NM_004572.3:c.2298T>G , LRG_398t1:c.2298T>G	NP_004563.2:p.Ile766Met
NM_001005242.3:c.2166T>G MANE Select	NP_001005242.2:p.Ile722Met
NM_004572.4:c.2298T>G	NP_004563.2:p.Ile766Met