Canonical Allele Identifier: CA946311962

Gene: PKP2

Linked Data

• dbSNP Id: rs1041952621
• gnomAD v3: 12-32841358-C-G
• gnomAD v4: 12-32841358-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841358C>G , CM000674.2:g.32841358C>G	GRCh38
NC_000012.11:g.32994292C>G , CM000674.1:g.32994292C>G	GRCh37
NC_000012.10:g.32885559C>G	NCBI36
NG_009000.1:g.60489G>C , LRG_398:g.60489G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-153G>C	ENSP00000515065.2:n.1379-153G>C
ENST00000700563.2:c.1379-153G>C	ENSP00000515066.2:n.1379-153G>C
ENST00000700559.1:c.594-153G>C
ENST00000700560.1:n.594-153G>C
ENST00000700561.1:n.720-153G>C
ENST00000700563.1:c.1333-153G>C
ENST00000700564.1:n.1383-153G>C
ENST00000700565.1:n.1232-153G>C
ENST00000070846.11:c.1511-153G>C	ENSP00000070846.6:n.1511-153G>C
ENST00000340811.9:c.1379-153G>C MANE Select	ENSP00000342800.5:n.1379-153G>C
ENST00000070846.10:c.1511-153G>C	ENSP00000070846.6:n.1511-153G>C
ENST00000340811.8:c.1379-153G>C	ENSP00000342800.4:n.1379-153G>C
ENST00000613243.1:c.1511-153G>C	ENSP00000478295.1:n.1511-153G>C
NM_001005242.2:c.1379-153G>C	NP_001005242.2:n.1379-153G>C
NM_004572.3:c.1511-153G>C , LRG_398t1:c.1511-153G>C	NP_004563.2:n.1511-153G>C
NM_001005242.3:c.1379-153G>C MANE Select	NP_001005242.2:n.1379-153G>C
NM_004572.4:c.1511-153G>C	NP_004563.2:n.1511-153G>C