Canonical Allele Identifier: CA10576922

Gene: PKP2

Linked Data

• ClinVar Variation Id: 228287
• ClinVar RCV Id: RCV000214880
• dbSNP Id: rs876657659
• MyVariant Identifiers: chr12:g.33003777dupG (hg19) ; chr12:g.33003776_33003777insG (hg19) ; chr12:g.32850843dupG (hg38) ; chr12:g.32850842_32850843insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850843dup , CM000674.2:g.32850843dup	GRCh38
NC_000012.11:g.33003777dup , CM000674.1:g.33003777dup	GRCh37
NC_000012.10:g.32895044dup	NCBI36
NG_009000.1:g.51004dup , LRG_398:g.51004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1301dup	ENSP00000515065.2:p.Glu435Ter
ENST00000700563.2:c.1301dup	ENSP00000515066.2:p.Glu435Ter
ENST00000700559.1:c.516dup
ENST00000700560.1:n.516dup
ENST00000700561.1:n.642dup
ENST00000700563.1:c.1255dup
ENST00000700564.1:n.1305dup
ENST00000700565.1:n.1154dup
ENST00000070846.11:c.1301dup	ENSP00000070846.6:p.Glu435Ter
ENST00000340811.9:c.1301dup MANE Select	ENSP00000342800.5:p.Glu435Ter
ENST00000070846.10:c.1301dup	ENSP00000070846.6:p.Glu435Ter
ENST00000340811.8:c.1301dup	ENSP00000342800.4:p.Glu435Ter
ENST00000613243.1:c.1301dup	ENSP00000478295.1:p.Glu435Ter
NM_001005242.2:c.1301dup	NP_001005242.2:p.Glu435Ter
NM_004572.3:c.1301dup , LRG_398t1:c.1301dup	NP_004563.2:p.Glu435Ter
NM_001005242.3:c.1301dup MANE Select	NP_001005242.2:p.Glu435Ter
NM_004572.4:c.1301dup	NP_004563.2:p.Glu435Ter