Canonical Allele Identifier: CA2618222972

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796364-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796364A>C , CM000674.2:g.32796364A>C	GRCh38
NC_000012.11:g.32949298A>C , CM000674.1:g.32949298A>C	GRCh37
NC_000012.10:g.32840565A>C	NCBI36
NG_009000.1:g.105483T>G , LRG_398:g.105483T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-66T>G
ENST00000700557.2:n.260-66T>G
ENST00000700559.2:c.2168-3633T>G	ENSP00000515065.2:n.2168-3633T>G
ENST00000546498.2:n.855-66T>G
ENST00000549461.2:n.660-66T>G
ENST00000700555.1:c.599-66T>G	ENSP00000515062.1:n.599-66T>G
ENST00000700556.1:c.639-66T>G
ENST00000700557.1:c.179-66T>G	ENSP00000515064.1:n.179-66T>G
ENST00000700558.1:n.382-66T>G
ENST00000700559.1:c.1383-3633T>G
ENST00000700560.1:n.1383-66T>G
ENST00000700561.1:n.1509-66T>G
ENST00000070846.11:c.2300-66T>G	ENSP00000070846.6:n.2300-66T>G
ENST00000340811.9:c.2168-66T>G MANE Select	ENSP00000342800.5:n.2168-66T>G
ENST00000070846.10:c.2300-66T>G	ENSP00000070846.6:n.2300-66T>G
ENST00000340811.8:c.2168-66T>G	ENSP00000342800.4:n.2168-66T>G
ENST00000613243.1:c.2300-66T>G	ENSP00000478295.1:n.2300-66T>G
NM_001005242.2:c.2168-66T>G	NP_001005242.2:n.2168-66T>G
NM_004572.3:c.2300-66T>G , LRG_398t1:c.2300-66T>G	NP_004563.2:n.2300-66T>G
NM_001005242.3:c.2168-66T>G MANE Select	NP_001005242.2:n.2168-66T>G
NM_004572.4:c.2300-66T>G	NP_004563.2:n.2300-66T>G