Canonical Allele Identifier: CA2618224593

Gene: PKP2

Linked Data

• gnomAD v4: 12-32821269-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821269T>C , CM000674.2:g.32821269T>C	GRCh38
NC_000012.11:g.32974203T>C , CM000674.1:g.32974203T>C	GRCh37
NC_000012.10:g.32865470T>C	NCBI36
NG_009000.1:g.80578A>G , LRG_398:g.80578A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.516+87A>G
ENST00000700559.2:c.2013+87A>G	ENSP00000515065.2:n.2013+87A>G
ENST00000700563.2:c.2013+87A>G	ENSP00000515066.2:n.2013+87A>G
ENST00000546498.2:n.700+87A>G
ENST00000549461.2:n.552+87A>G
ENST00000700555.1:c.444+87A>G	ENSP00000515062.1:n.444+87A>G
ENST00000700556.1:c.484+87A>G
ENST00000700558.1:n.227+87A>G
ENST00000700559.1:c.1228+87A>G
ENST00000700560.1:n.1228+87A>G
ENST00000700561.1:n.1354+87A>G
ENST00000700562.1:n.551+87A>G
ENST00000700563.1:c.1967+87A>G
ENST00000700564.1:n.2104A>G
ENST00000070846.11:c.2145+87A>G	ENSP00000070846.6:n.2145+87A>G
ENST00000340811.9:c.2013+87A>G MANE Select	ENSP00000342800.5:n.2013+87A>G
ENST00000070846.10:c.2145+87A>G	ENSP00000070846.6:n.2145+87A>G
ENST00000340811.8:c.2013+87A>G	ENSP00000342800.4:n.2013+87A>G
ENST00000549461.1:n.459+87A>G
ENST00000552612.5:n.521A>G
ENST00000613243.1:c.2145+87A>G	ENSP00000478295.1:n.2145+87A>G
NM_001005242.2:c.2013+87A>G	NP_001005242.2:n.2013+87A>G
NM_004572.3:c.2145+87A>G , LRG_398t1:c.2145+87A>G	NP_004563.2:n.2145+87A>G
NM_001005242.3:c.2013+87A>G MANE Select	NP_001005242.2:n.2013+87A>G
NM_004572.4:c.2145+87A>G	NP_004563.2:n.2145+87A>G