Canonical Allele Identifier: CA2575118400

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796393-CTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796397_32796400del , CM000674.2:g.32796397_32796400del	GRCh38
NC_000012.11:g.32949331_32949334del , CM000674.1:g.32949331_32949334del	GRCh37
NC_000012.10:g.32840598_32840601del	NCBI36
NG_009000.1:g.105450_105453del , LRG_398:g.105450_105453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-99_671-96del
ENST00000700557.2:n.260-99_260-96del
ENST00000700559.2:c.2168-3666_2168-3663del	ENSP00000515065.2:n.2168-3666_2168-3663del
ENST00000546498.2:n.855-99_855-96del
ENST00000549461.2:n.660-99_660-96del
ENST00000700555.1:c.599-99_599-96del	ENSP00000515062.1:n.599-99_599-96del
ENST00000700556.1:c.639-99_639-96del
ENST00000700557.1:c.179-99_179-96del	ENSP00000515064.1:n.179-99_179-96del
ENST00000700558.1:n.382-99_382-96del
ENST00000700559.1:c.1383-3666_1383-3663del
ENST00000700560.1:n.1383-99_1383-96del
ENST00000700561.1:n.1509-99_1509-96del
ENST00000070846.11:c.2300-99_2300-96del	ENSP00000070846.6:n.2300-99_2300-96del
ENST00000340811.9:c.2168-99_2168-96del MANE Select	ENSP00000342800.5:n.2168-99_2168-96del
ENST00000070846.10:c.2300-99_2300-96del	ENSP00000070846.6:n.2300-99_2300-96del
ENST00000340811.8:c.2168-99_2168-96del	ENSP00000342800.4:n.2168-99_2168-96del
ENST00000613243.1:c.2300-99_2300-96del	ENSP00000478295.1:n.2300-99_2300-96del
NM_001005242.2:c.2168-99_2168-96del	NP_001005242.2:n.2168-99_2168-96del
NM_004572.3:c.2300-99_2300-96del , LRG_398t1:c.2300-99_2300-96del	NP_004563.2:n.2300-99_2300-96del
NM_001005242.3:c.2168-99_2168-96del MANE Select	NP_001005242.2:n.2168-99_2168-96del
NM_004572.4:c.2300-99_2300-96del	NP_004563.2:n.2300-99_2300-96del