Canonical Allele Identifier: CA2573148519

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1535861
• ClinVar RCV Id: RCV002072791
• dbSNP Id: rs1592750729

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850993A>C , CM000674.2:g.32850993A>C	GRCh38
NC_000012.11:g.33003927A>C , CM000674.1:g.33003927A>C	GRCh37
NC_000012.10:g.32895194A>C	NCBI36
NG_009000.1:g.50854T>G , LRG_398:g.50854T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1171-20T>G	ENSP00000515065.2:n.1171-20T>G
ENST00000700563.2:c.1171-20T>G	ENSP00000515066.2:n.1171-20T>G
ENST00000700559.1:c.386-20T>G
ENST00000700560.1:n.386-20T>G
ENST00000700561.1:n.512-20T>G
ENST00000700563.1:c.1125-20T>G
ENST00000700564.1:n.1175-20T>G
ENST00000700565.1:n.1024-20T>G
ENST00000070846.11:c.1171-20T>G	ENSP00000070846.6:n.1171-20T>G
ENST00000340811.9:c.1171-20T>G MANE Select	ENSP00000342800.5:n.1171-20T>G
ENST00000070846.10:c.1171-20T>G	ENSP00000070846.6:n.1171-20T>G
ENST00000340811.8:c.1171-20T>G	ENSP00000342800.4:n.1171-20T>G
ENST00000613243.1:c.1171-20T>G	ENSP00000478295.1:n.1171-20T>G
NM_001005242.2:c.1171-20T>G	NP_001005242.2:n.1171-20T>G
NM_004572.3:c.1171-20T>G , LRG_398t1:c.1171-20T>G	NP_004563.2:n.1171-20T>G
NM_001005242.3:c.1171-20T>G MANE Select	NP_001005242.2:n.1171-20T>G
NM_004572.4:c.1171-20T>G	NP_004563.2:n.1171-20T>G