Canonical Allele Identifier: CA2026361277

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796575_32796576delinsAT , CM000674.2:g.32796575_32796576delinsAT	GRCh38
NC_000012.11:g.32949509_32949510delinsAT , CM000674.1:g.32949509_32949510delinsAT	GRCh37
NC_000012.10:g.32840776_32840777delinsAT	NCBI36
NG_009000.1:g.105271_105272delinsAT , LRG_398:g.105271_105272delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-278_671-277delinsAT
ENST00000700557.2:n.260-278_260-277delinsAT
ENST00000700559.2:c.2168-3845_2168-3844delinsAT	ENSP00000515065.2:n.2168-3845_2168-3844delinsAT
ENST00000546498.2:n.855-278_855-277delinsAT
ENST00000549461.2:n.660-278_660-277delinsAT
ENST00000700555.1:c.599-278_599-277delinsAT	ENSP00000515062.1:n.599-278_599-277delinsAT
ENST00000700556.1:c.639-278_639-277delinsAT
ENST00000700557.1:c.179-278_179-277delinsAT	ENSP00000515064.1:n.179-278_179-277delinsAT
ENST00000700558.1:n.382-278_382-277delinsAT
ENST00000700559.1:c.1383-3845_1383-3844delinsAT
ENST00000700560.1:n.1383-278_1383-277delinsAT
ENST00000700561.1:n.1509-278_1509-277delinsAT
ENST00000070846.11:c.2300-278_2300-277delinsAT	ENSP00000070846.6:n.2300-278_2300-277delinsAT
ENST00000340811.9:c.2168-278_2168-277delinsAT MANE Select	ENSP00000342800.5:n.2168-278_2168-277delinsAT
ENST00000070846.10:c.2300-278_2300-277delinsAT	ENSP00000070846.6:n.2300-278_2300-277delinsAT
ENST00000340811.8:c.2168-278_2168-277delinsAT	ENSP00000342800.4:n.2168-278_2168-277delinsAT
ENST00000613243.1:c.2300-278_2300-277delinsAT	ENSP00000478295.1:n.2300-278_2300-277delinsAT
NM_001005242.2:c.2168-278_2168-277delinsAT	NP_001005242.2:n.2168-278_2168-277delinsAT
NM_004572.3:c.2300-278_2300-277delinsAT , LRG_398t1:c.2300-278_2300-277delinsAT	NP_004563.2:n.2300-278_2300-277delinsAT
NM_001005242.3:c.2168-278_2168-277delinsAT MANE Select	NP_001005242.2:n.2168-278_2168-277delinsAT
NM_004572.4:c.2300-278_2300-277delinsAT	NP_004563.2:n.2300-278_2300-277delinsAT