Canonical Allele Identifier: CA2618222941

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796315-AAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796319_32796322del , CM000674.2:g.32796319_32796322del	GRCh38
NC_000012.11:g.32949253_32949256del , CM000674.1:g.32949253_32949256del	GRCh37
NC_000012.10:g.32840520_32840523del	NCBI36
NG_009000.1:g.105528_105531del , LRG_398:g.105528_105531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-21_671-18del
ENST00000700557.2:n.260-21_260-18del
ENST00000700559.2:c.2168-3588_2168-3585del	ENSP00000515065.2:n.2168-3588_2168-3585del
ENST00000546498.2:n.855-21_855-18del
ENST00000549461.2:n.660-21_660-18del
ENST00000700555.1:c.599-21_599-18del	ENSP00000515062.1:n.599-21_599-18del
ENST00000700556.1:c.639-21_639-18del
ENST00000700557.1:c.179-21_179-18del	ENSP00000515064.1:n.179-21_179-18del
ENST00000700558.1:n.382-21_382-18del
ENST00000700559.1:c.1383-3588_1383-3585del
ENST00000700560.1:n.1383-21_1383-18del
ENST00000700561.1:n.1509-21_1509-18del
ENST00000070846.11:c.2300-21_2300-18del	ENSP00000070846.6:n.2300-21_2300-18del
ENST00000340811.9:c.2168-21_2168-18del MANE Select	ENSP00000342800.5:n.2168-21_2168-18del
ENST00000070846.10:c.2300-21_2300-18del	ENSP00000070846.6:n.2300-21_2300-18del
ENST00000340811.8:c.2168-21_2168-18del	ENSP00000342800.4:n.2168-21_2168-18del
ENST00000613243.1:c.2300-21_2300-18del	ENSP00000478295.1:n.2300-21_2300-18del
NM_001005242.2:c.2168-21_2168-18del	NP_001005242.2:n.2168-21_2168-18del
NM_004572.3:c.2300-21_2300-18del , LRG_398t1:c.2300-21_2300-18del	NP_004563.2:n.2300-21_2300-18del
NM_001005242.3:c.2168-21_2168-18del MANE Select	NP_001005242.2:n.2168-21_2168-18del
NM_004572.4:c.2300-21_2300-18del	NP_004563.2:n.2300-21_2300-18del