Canonical Allele Identifier: CA2026396036

Gene: PKP2

Linked Data

• dbSNP Id: rs1956373385
• gnomAD v4: 12-32821318-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821318A>G , CM000674.2:g.32821318A>G	GRCh38
NC_000012.11:g.32974252A>G , CM000674.1:g.32974252A>G	GRCh37
NC_000012.10:g.32865519A>G	NCBI36
NG_009000.1:g.80529T>C , LRG_398:g.80529T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.516+38T>C
ENST00000700559.2:c.2013+38T>C	ENSP00000515065.2:n.2013+38T>C
ENST00000700563.2:c.2013+38T>C	ENSP00000515066.2:n.2013+38T>C
ENST00000546498.2:n.700+38T>C
ENST00000549461.2:n.552+38T>C
ENST00000700555.1:c.444+38T>C	ENSP00000515062.1:n.444+38T>C
ENST00000700556.1:c.484+38T>C
ENST00000700558.1:n.227+38T>C
ENST00000700559.1:c.1228+38T>C
ENST00000700560.1:n.1228+38T>C
ENST00000700561.1:n.1354+38T>C
ENST00000700562.1:n.551+38T>C
ENST00000700563.1:c.1967+38T>C
ENST00000700564.1:n.2055T>C
ENST00000070846.11:c.2145+38T>C	ENSP00000070846.6:n.2145+38T>C
ENST00000340811.9:c.2013+38T>C MANE Select	ENSP00000342800.5:n.2013+38T>C
ENST00000070846.10:c.2145+38T>C	ENSP00000070846.6:n.2145+38T>C
ENST00000340811.8:c.2013+38T>C	ENSP00000342800.4:n.2013+38T>C
ENST00000549461.1:n.459+38T>C
ENST00000552612.5:n.472T>C
ENST00000613243.1:c.2145+38T>C	ENSP00000478295.1:n.2145+38T>C
NM_001005242.2:c.2013+38T>C	NP_001005242.2:n.2013+38T>C
NM_004572.3:c.2145+38T>C , LRG_398t1:c.2145+38T>C	NP_004563.2:n.2145+38T>C
NM_001005242.3:c.2013+38T>C MANE Select	NP_001005242.2:n.2013+38T>C
NM_004572.4:c.2145+38T>C	NP_004563.2:n.2145+38T>C