Canonical Allele Identifier: CA384359626

Gene: PKP2

Linked Data

• ClinVar Variation Id: 3074360
• ClinVar RCV Id: RCV004013894
• gnomAD v4: 12-32802465-T-C
• MyVariant Identifiers: chr12:g.32955399T>C (hg19) ; chr12:g.32802465T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802465T>C , CM000674.2:g.32802465T>C	GRCh38
NC_000012.11:g.32955399T>C , CM000674.1:g.32955399T>C	GRCh37
NC_000012.10:g.32846666T>C	NCBI36
NG_009000.1:g.99382A>G , LRG_398:g.99382A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.608A>G
ENST00000700557.2:n.197A>G
ENST00000700559.2:c.2105A>G	ENSP00000515065.2:p.Lys702Arg
ENST00000546498.2:n.792A>G
ENST00000549461.2:n.644A>G
ENST00000700555.1:c.536A>G	ENSP00000515062.1:p.Lys179Arg
ENST00000700556.1:c.576A>G
ENST00000700557.1:c.116A>G	ENSP00000515064.1:p.Lys39Arg
ENST00000700558.1:n.319A>G
ENST00000700559.1:c.1320A>G
ENST00000700560.1:n.1320A>G
ENST00000700561.1:n.1446A>G
ENST00000070846.11:c.2237A>G	ENSP00000070846.6:p.Lys746Arg
ENST00000340811.9:c.2105A>G MANE Select	ENSP00000342800.5:p.Lys702Arg
ENST00000070846.10:c.2237A>G	ENSP00000070846.6:p.Lys746Arg
ENST00000340811.8:c.2105A>G	ENSP00000342800.4:p.Lys702Arg
ENST00000549461.1:n.551A>G
ENST00000613243.1:c.2237A>G	ENSP00000478295.1:p.Lys746Arg
NM_001005242.2:c.2105A>G	NP_001005242.2:p.Lys702Arg
NM_004572.3:c.2237A>G , LRG_398t1:c.2237A>G	NP_004563.2:p.Lys746Arg
NM_001005242.3:c.2105A>G MANE Select	NP_001005242.2:p.Lys702Arg
NM_004572.4:c.2237A>G	NP_004563.2:p.Lys746Arg