Canonical Allele Identifier: CA2026390031

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32851136_32851137delinsAT , CM000674.2:g.32851136_32851137delinsAT	GRCh38
NC_000012.11:g.33004070_33004071delinsAT , CM000674.1:g.33004070_33004071delinsAT	GRCh37
NC_000012.10:g.32895337_32895338delinsAT	NCBI36
NG_009000.1:g.50710_50711delinsAT , LRG_398:g.50710_50711delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1171-164_1171-163delinsAT	ENSP00000515065.2:n.1171-164_1171-163delinsAT
ENST00000700563.2:c.1171-164_1171-163delinsAT	ENSP00000515066.2:n.1171-164_1171-163delinsAT
ENST00000700559.1:c.386-164_386-163delinsAT
ENST00000700560.1:n.386-164_386-163delinsAT
ENST00000700561.1:n.512-164_512-163delinsAT
ENST00000700563.1:c.1125-164_1125-163delinsAT
ENST00000700564.1:n.1175-164_1175-163delinsAT
ENST00000700565.1:n.1024-164_1024-163delinsAT
ENST00000070846.11:c.1171-164_1171-163delinsAT	ENSP00000070846.6:n.1171-164_1171-163delinsAT
ENST00000340811.9:c.1171-164_1171-163delinsAT MANE Select	ENSP00000342800.5:n.1171-164_1171-163delinsAT
ENST00000070846.10:c.1171-164_1171-163delinsAT	ENSP00000070846.6:n.1171-164_1171-163delinsAT
ENST00000340811.8:c.1171-164_1171-163delinsAT	ENSP00000342800.4:n.1171-164_1171-163delinsAT
ENST00000613243.1:c.1171-164_1171-163delinsAT	ENSP00000478295.1:n.1171-164_1171-163delinsAT
NM_001005242.2:c.1171-164_1171-163delinsAT	NP_001005242.2:n.1171-164_1171-163delinsAT
NM_004572.3:c.1171-164_1171-163delinsAT , LRG_398t1:c.1171-164_1171-163delinsAT	NP_004563.2:n.1171-164_1171-163delinsAT
NM_001005242.3:c.1171-164_1171-163delinsAT MANE Select	NP_001005242.2:n.1171-164_1171-163delinsAT
NM_004572.4:c.1171-164_1171-163delinsAT	NP_004563.2:n.1171-164_1171-163delinsAT