Canonical Allele Identifier: CA2618226461

Gene: PKP2

Linked Data

• gnomAD v4: 12-32868908-GACTGAAGATGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868912_32868923del , CM000674.2:g.32868912_32868923del	GRCh38
NC_000012.11:g.33021846_33021857del , CM000674.1:g.33021846_33021857del	GRCh37
NC_000012.10:g.32913113_32913124del	NCBI36
NG_009000.1:g.32927_32938del , LRG_398:g.32927_32938del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1170+7_1170+18del	ENSP00000515065.2:n.1170+7_1170+18del
ENST00000700563.2:c.1170+7_1170+18del	ENSP00000515066.2:n.1170+7_1170+18del
ENST00000700559.1:c.385+7_385+18del
ENST00000700560.1:n.385+7_385+18del
ENST00000700561.1:n.511+7_511+18del
ENST00000700563.1:c.1124+7_1124+18del
ENST00000700564.1:n.1174+7_1174+18del
ENST00000700565.1:n.1023+7_1023+18del
ENST00000070846.11:c.1170+7_1170+18del	ENSP00000070846.6:n.1170+7_1170+18del
ENST00000340811.9:c.1170+7_1170+18del MANE Select	ENSP00000342800.5:n.1170+7_1170+18del
ENST00000070846.10:c.1170+7_1170+18del	ENSP00000070846.6:n.1170+7_1170+18del
ENST00000340811.8:c.1170+7_1170+18del	ENSP00000342800.4:n.1170+7_1170+18del
ENST00000613243.1:c.1170+7_1170+18del	ENSP00000478295.1:n.1170+7_1170+18del
NM_001005242.2:c.1170+7_1170+18del	NP_001005242.2:n.1170+7_1170+18del
NM_004572.3:c.1170+7_1170+18del , LRG_398t1:c.1170+7_1170+18del	NP_004563.2:n.1170+7_1170+18del
NM_001005242.3:c.1170+7_1170+18del MANE Select	NP_001005242.2:n.1170+7_1170+18del
NM_004572.4:c.1170+7_1170+18del	NP_004563.2:n.1170+7_1170+18del