Canonical Allele Identifier: CA384368112

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1774545
• ClinVar RCV Id: RCV002392547
• MyVariant Identifiers: chr12:g.32994123C>G (hg19) ; chr12:g.32841189C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841189C>G , CM000674.2:g.32841189C>G	GRCh38
NC_000012.11:g.32994123C>G , CM000674.1:g.32994123C>G	GRCh37
NC_000012.10:g.32885390C>G	NCBI36
NG_009000.1:g.60658G>C , LRG_398:g.60658G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1395G>C	ENSP00000515065.2:p.Leu465Phe
ENST00000700563.2:c.1395G>C	ENSP00000515066.2:p.Leu465Phe
ENST00000700559.1:c.610G>C
ENST00000700560.1:n.610G>C
ENST00000700561.1:n.736G>C
ENST00000700563.1:c.1349G>C
ENST00000700564.1:n.1399G>C
ENST00000700565.1:n.1248G>C
ENST00000070846.11:c.1527G>C	ENSP00000070846.6:p.Leu509Phe
ENST00000340811.9:c.1395G>C MANE Select	ENSP00000342800.5:p.Leu465Phe
ENST00000070846.10:c.1527G>C	ENSP00000070846.6:p.Leu509Phe
ENST00000340811.8:c.1395G>C	ENSP00000342800.4:p.Leu465Phe
ENST00000613243.1:c.1527G>C	ENSP00000478295.1:p.Leu509Phe
NM_001005242.2:c.1395G>C	NP_001005242.2:p.Leu465Phe
NM_004572.3:c.1527G>C , LRG_398t1:c.1527G>C	NP_004563.2:p.Leu509Phe
NM_001005242.3:c.1395G>C MANE Select	NP_001005242.2:p.Leu465Phe
NM_004572.4:c.1527G>C	NP_004563.2:p.Leu509Phe