Canonical Allele Identifier: CA235234946

Gene: PKP2

Linked Data

• dbSNP Id: rs894654215
• gnomAD v2: 12-32974265-G-A
• gnomAD v3: 12-32821331-G-A
• gnomAD v4: 12-32821331-G-A
• MyVariant Identifiers: chr12:g.32974265G>A (hg19) ; chr12:g.32821331G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821331G>A , CM000674.2:g.32821331G>A	GRCh38
NC_000012.11:g.32974265G>A , CM000674.1:g.32974265G>A	GRCh37
NC_000012.10:g.32865532G>A	NCBI36
NG_009000.1:g.80516C>T , LRG_398:g.80516C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.516+25C>T
ENST00000700559.2:c.2013+25C>T	ENSP00000515065.2:n.2013+25C>T
ENST00000700563.2:c.2013+25C>T	ENSP00000515066.2:n.2013+25C>T
ENST00000546498.2:n.700+25C>T
ENST00000549461.2:n.552+25C>T
ENST00000700555.1:c.444+25C>T	ENSP00000515062.1:n.444+25C>T
ENST00000700556.1:c.484+25C>T
ENST00000700558.1:n.227+25C>T
ENST00000700559.1:c.1228+25C>T
ENST00000700560.1:n.1228+25C>T
ENST00000700561.1:n.1354+25C>T
ENST00000700562.1:n.551+25C>T
ENST00000700563.1:c.1967+25C>T
ENST00000700564.1:n.2042C>T
ENST00000070846.11:c.2145+25C>T	ENSP00000070846.6:n.2145+25C>T
ENST00000340811.9:c.2013+25C>T MANE Select	ENSP00000342800.5:n.2013+25C>T
ENST00000070846.10:c.2145+25C>T	ENSP00000070846.6:n.2145+25C>T
ENST00000340811.8:c.2013+25C>T	ENSP00000342800.4:n.2013+25C>T
ENST00000549461.1:n.459+25C>T
ENST00000552612.5:n.459C>T
ENST00000613243.1:c.2145+25C>T	ENSP00000478295.1:n.2145+25C>T
NM_001005242.2:c.2013+25C>T	NP_001005242.2:n.2013+25C>T
NM_004572.3:c.2145+25C>T , LRG_398t1:c.2145+25C>T	NP_004563.2:n.2145+25C>T
NM_001005242.3:c.2013+25C>T MANE Select	NP_001005242.2:n.2013+25C>T
NM_004572.4:c.2145+25C>T	NP_004563.2:n.2145+25C>T