Canonical Allele Identifier: CA946311332

Gene: PKP2

Linked Data

• dbSNP Id: rs771236687
• gnomAD v3: 12-32868887-A-G
• gnomAD v4: 12-32868887-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868887A>G , CM000674.2:g.32868887A>G	GRCh38
NC_000012.11:g.33021821A>G , CM000674.1:g.33021821A>G	GRCh37
NC_000012.10:g.32913088A>G	NCBI36
NG_009000.1:g.32960T>C , LRG_398:g.32960T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1170+40T>C	ENSP00000515065.2:n.1170+40T>C
ENST00000700563.2:c.1170+40T>C	ENSP00000515066.2:n.1170+40T>C
ENST00000700559.1:c.385+40T>C
ENST00000700560.1:n.385+40T>C
ENST00000700561.1:n.511+40T>C
ENST00000700563.1:c.1124+40T>C
ENST00000700564.1:n.1174+40T>C
ENST00000700565.1:n.1023+40T>C
ENST00000070846.11:c.1170+40T>C	ENSP00000070846.6:n.1170+40T>C
ENST00000340811.9:c.1170+40T>C MANE Select	ENSP00000342800.5:n.1170+40T>C
ENST00000070846.10:c.1170+40T>C	ENSP00000070846.6:n.1170+40T>C
ENST00000340811.8:c.1170+40T>C	ENSP00000342800.4:n.1170+40T>C
ENST00000613243.1:c.1170+40T>C	ENSP00000478295.1:n.1170+40T>C
NM_001005242.2:c.1170+40T>C	NP_001005242.2:n.1170+40T>C
NM_004572.3:c.1170+40T>C , LRG_398t1:c.1170+40T>C	NP_004563.2:n.1170+40T>C
NM_001005242.3:c.1170+40T>C MANE Select	NP_001005242.2:n.1170+40T>C
NM_004572.4:c.1170+40T>C	NP_004563.2:n.1170+40T>C