Canonical Allele Identifier: CA604231050

Gene: PKP2

Linked Data

• dbSNP Id: rs1357253441
• gnomAD v2: 12-33022026-T-C
• gnomAD v4: 12-32869092-T-C
• MyVariant Identifiers: chr12:g.33022026T>C (hg19) ; chr12:g.32869092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32869092T>C , CM000674.2:g.32869092T>C	GRCh38
NC_000012.11:g.33022026T>C , CM000674.1:g.33022026T>C	GRCh37
NC_000012.10:g.32913293T>C	NCBI36
NG_009000.1:g.32755A>G , LRG_398:g.32755A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1035-30A>G	ENSP00000515065.2:n.1035-30A>G
ENST00000700563.2:c.1035-30A>G	ENSP00000515066.2:n.1035-30A>G
ENST00000700559.1:c.250-30A>G
ENST00000700560.1:n.250-30A>G
ENST00000700561.1:n.376-30A>G
ENST00000700563.1:c.989-30A>G
ENST00000700564.1:n.1039-30A>G
ENST00000700565.1:n.888-30A>G
ENST00000070846.11:c.1035-30A>G	ENSP00000070846.6:n.1035-30A>G
ENST00000340811.9:c.1035-30A>G MANE Select	ENSP00000342800.5:n.1035-30A>G
ENST00000070846.10:c.1035-30A>G	ENSP00000070846.6:n.1035-30A>G
ENST00000340811.8:c.1035-30A>G	ENSP00000342800.4:n.1035-30A>G
ENST00000613243.1:c.1035-30A>G	ENSP00000478295.1:n.1035-30A>G
NM_001005242.2:c.1035-30A>G	NP_001005242.2:n.1035-30A>G
NM_004572.3:c.1035-30A>G , LRG_398t1:c.1035-30A>G	NP_004563.2:n.1035-30A>G
NM_001005242.3:c.1035-30A>G MANE Select	NP_001005242.2:n.1035-30A>G
NM_004572.4:c.1035-30A>G	NP_004563.2:n.1035-30A>G