Canonical Allele Identifier: CA384367330

Gene: PKP2

Linked Data

• dbSNP Id: rs1286296301
• gnomAD v2: 12-32993987-A-G
• gnomAD v4: 12-32841053-A-G
• MyVariant Identifiers: chr12:g.32993987A>G (hg19) ; chr12:g.32841053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841053A>G , CM000674.2:g.32841053A>G	GRCh38
NC_000012.11:g.32993987A>G , CM000674.1:g.32993987A>G	GRCh37
NC_000012.10:g.32885254A>G	NCBI36
NG_009000.1:g.60794T>C , LRG_398:g.60794T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1531T>C	ENSP00000515065.2:p.Phe511Leu
ENST00000700563.2:c.1531T>C	ENSP00000515066.2:p.Phe511Leu
ENST00000700556.1:c.2T>C
ENST00000700559.1:c.746T>C
ENST00000700560.1:n.746T>C
ENST00000700561.1:n.872T>C
ENST00000700563.1:c.1485T>C
ENST00000700564.1:n.1535T>C
ENST00000700565.1:n.1384T>C
ENST00000070846.11:c.1663T>C	ENSP00000070846.6:p.Phe555Leu
ENST00000340811.9:c.1531T>C MANE Select	ENSP00000342800.5:p.Phe511Leu
ENST00000070846.10:c.1663T>C	ENSP00000070846.6:p.Phe555Leu
ENST00000340811.8:c.1531T>C	ENSP00000342800.4:p.Phe511Leu
ENST00000613243.1:c.1663T>C	ENSP00000478295.1:p.Phe555Leu
NM_001005242.2:c.1531T>C	NP_001005242.2:p.Phe511Leu
NM_004572.3:c.1663T>C , LRG_398t1:c.1663T>C	NP_004563.2:p.Phe555Leu
NM_001005242.3:c.1531T>C MANE Select	NP_001005242.2:p.Phe511Leu
NM_004572.4:c.1663T>C	NP_004563.2:p.Phe555Leu