Canonical Allele Identifier: CA946311339

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2145884
• ClinVar RCV Id: RCV003065261
• dbSNP Id: rs1956872599
• gnomAD v3: 12-32868908-G-C
• gnomAD v4: 12-32868908-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868908G>C , CM000674.2:g.32868908G>C	GRCh38
NC_000012.11:g.33021842G>C , CM000674.1:g.33021842G>C	GRCh37
NC_000012.10:g.32913109G>C	NCBI36
NG_009000.1:g.32939C>G , LRG_398:g.32939C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1170+19C>G	ENSP00000515065.2:n.1170+19C>G
ENST00000700563.2:c.1170+19C>G	ENSP00000515066.2:n.1170+19C>G
ENST00000700559.1:c.385+19C>G
ENST00000700560.1:n.385+19C>G
ENST00000700561.1:n.511+19C>G
ENST00000700563.1:c.1124+19C>G
ENST00000700564.1:n.1174+19C>G
ENST00000700565.1:n.1023+19C>G
ENST00000070846.11:c.1170+19C>G	ENSP00000070846.6:n.1170+19C>G
ENST00000340811.9:c.1170+19C>G MANE Select	ENSP00000342800.5:n.1170+19C>G
ENST00000070846.10:c.1170+19C>G	ENSP00000070846.6:n.1170+19C>G
ENST00000340811.8:c.1170+19C>G	ENSP00000342800.4:n.1170+19C>G
ENST00000613243.1:c.1170+19C>G	ENSP00000478295.1:n.1170+19C>G
NM_001005242.2:c.1170+19C>G	NP_001005242.2:n.1170+19C>G
NM_004572.3:c.1170+19C>G , LRG_398t1:c.1170+19C>G	NP_004563.2:n.1170+19C>G
NM_001005242.3:c.1170+19C>G MANE Select	NP_001005242.2:n.1170+19C>G
NM_004572.4:c.1170+19C>G	NP_004563.2:n.1170+19C>G