Canonical Allele Identifier: CA2026360406

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796259_32796264delinsTCAGGA , CM000674.2:g.32796259_32796264delinsTCAGGA	GRCh38
NC_000012.11:g.32949193_32949198delinsTCAGGA , CM000674.1:g.32949193_32949198delinsTCAGGA	GRCh37
NC_000012.10:g.32840460_32840465delinsTCAGGA	NCBI36
NG_009000.1:g.105583_105588delinsTCCTGA , LRG_398:g.105583_105588delinsTCCTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.705_710delinsTCCTGA
ENST00000700557.2:n.294_299delinsTCCTGA
ENST00000700559.2:c.2168-3533_2168-3528delinsTCCTGA	ENSP00000515065.2:n.2168-3533_2168-3528de...
ENST00000546498.2:n.889_894delinsTCCTGA
ENST00000549461.2:n.694_699delinsTCCTGA
ENST00000700555.1:c.633_638delinsTCCTGA	ENSP00000515062.1:p.Ile211=
ENST00000700556.1:c.673_678delinsTCCTGA
ENST00000700557.1:c.213_218delinsTCCTGA	ENSP00000515064.1:p.Ile71=
ENST00000700558.1:n.416_421delinsTCCTGA
ENST00000700559.1:c.1383-3533_1383-3528delinsTCCTGA
ENST00000700560.1:n.1417_1422delinsTCCTGA
ENST00000700561.1:n.1543_1548delinsTCCTGA
ENST00000070846.11:c.2334_2339delinsTCCTGA	ENSP00000070846.6:p.Ile778=
ENST00000340811.9:c.2202_2207delinsTCCTGA MANE Select	ENSP00000342800.5:p.Ile734=
ENST00000070846.10:c.2334_2339delinsTCCTGA	ENSP00000070846.6:p.Ile778=
ENST00000340811.8:c.2202_2207delinsTCCTGA	ENSP00000342800.4:p.Ile734=
ENST00000613243.1:c.2334_2339delinsTCCTGA	ENSP00000478295.1:p.Ile778=
NM_001005242.2:c.2202_2207delinsTCCTGA	NP_001005242.2:p.Ile734=
NM_004572.3:c.2334_2339delinsTCCTGA , LRG_398t1:c.2334_2339delinsTCCTGA	NP_004563.2:p.Ile778=
NM_001005242.3:c.2202_2207delinsTCCTGA MANE Select	NP_001005242.2:p.Ile734=
NM_004572.4:c.2334_2339delinsTCCTGA	NP_004563.2:p.Ile778=