Canonical Allele Identifier: CA2618226805

Gene: PKP2

Linked Data

• gnomAD v4: 12-32878874-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878874C>T , CM000674.2:g.32878874C>T	GRCh38
NC_000012.11:g.33031808C>T , CM000674.1:g.33031808C>T	GRCh37
NC_000012.10:g.32923075C>T	NCBI36
NG_009000.1:g.22973G>A , LRG_398:g.22973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.336+46G>A	ENSP00000515065.2:n.336+46G>A
ENST00000700563.2:c.336+46G>A	ENSP00000515066.2:n.336+46G>A
ENST00000700563.1:c.290+46G>A
ENST00000700564.1:n.340+46G>A
ENST00000700565.1:n.189+46G>A
ENST00000070846.11:c.336+46G>A	ENSP00000070846.6:n.336+46G>A
ENST00000340811.9:c.336+46G>A MANE Select	ENSP00000342800.5:n.336+46G>A
ENST00000070846.10:c.336+46G>A	ENSP00000070846.6:n.336+46G>A
ENST00000340811.8:c.336+46G>A	ENSP00000342800.4:n.336+46G>A
ENST00000613243.1:c.336+46G>A	ENSP00000478295.1:n.336+46G>A
NM_001005242.2:c.336+46G>A	NP_001005242.2:n.336+46G>A
NM_004572.3:c.336+46G>A , LRG_398t1:c.336+46G>A	NP_004563.2:n.336+46G>A
NM_001005242.3:c.336+46G>A MANE Select	NP_001005242.2:n.336+46G>A
NM_004572.4:c.336+46G>A	NP_004563.2:n.336+46G>A