Canonical Allele Identifier: CA011197

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45034
• ClinVar RCV Id: RCV000038173
• dbSNP Id: rs397517000
• MyVariant Identifiers: chr12:g.32994070A>G (hg19) ; chr12:g.32841136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841136A>G , CM000674.2:g.32841136A>G	GRCh38
NC_000012.11:g.32994070A>G , CM000674.1:g.32994070A>G	GRCh37
NC_000012.10:g.32885337A>G	NCBI36
NG_009000.1:g.60711T>C , LRG_398:g.60711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1448T>C	ENSP00000515065.2:p.Leu483Pro
ENST00000700563.2:c.1448T>C	ENSP00000515066.2:p.Leu483Pro
ENST00000700559.1:c.663T>C
ENST00000700560.1:n.663T>C
ENST00000700561.1:n.789T>C
ENST00000700563.1:c.1402T>C
ENST00000700564.1:n.1452T>C
ENST00000700565.1:n.1301T>C
ENST00000070846.11:c.1580T>C	ENSP00000070846.6:p.Leu527Pro
ENST00000340811.9:c.1448T>C MANE Select	ENSP00000342800.5:p.Leu483Pro
ENST00000070846.10:c.1580T>C	ENSP00000070846.6:p.Leu527Pro
ENST00000340811.8:c.1448T>C	ENSP00000342800.4:p.Leu483Pro
ENST00000613243.1:c.1580T>C	ENSP00000478295.1:p.Leu527Pro
NM_001005242.2:c.1448T>C	NP_001005242.2:p.Leu483Pro
NM_004572.3:c.1580T>C , LRG_398t1:c.1580T>C	NP_004563.2:p.Leu527Pro
NM_001005242.3:c.1448T>C MANE Select	NP_001005242.2:p.Leu483Pro
NM_004572.4:c.1580T>C	NP_004563.2:p.Leu527Pro