Canonical Allele Identifier: CA2026374483

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802546_32802547delinsGA , CM000674.2:g.32802546_32802547delinsGA	GRCh38
NC_000012.11:g.32955480_32955481delinsGA , CM000674.1:g.32955480_32955481delinsGA	GRCh37
NC_000012.10:g.32846747_32846748delinsGA	NCBI36
NG_009000.1:g.99300_99301delinsTC , LRG_398:g.99300_99301delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.526_527delinsTC
ENST00000700557.2:n.115_116delinsTC
ENST00000700559.2:c.2023_2024delinsTC	ENSP00000515065.2:p.Ser675=
ENST00000546498.2:n.710_711delinsTC
ENST00000549461.2:n.562_563delinsTC
ENST00000700555.1:c.454_455delinsTC	ENSP00000515062.1:p.Ser152=
ENST00000700556.1:c.494_495delinsTC
ENST00000700557.1:c.34_35delinsTC	ENSP00000515064.1:p.Ser12=
ENST00000700558.1:n.237_238delinsTC
ENST00000700559.1:c.1238_1239delinsTC
ENST00000700560.1:n.1238_1239delinsTC
ENST00000700561.1:n.1364_1365delinsTC
ENST00000070846.11:c.2155_2156delinsTC	ENSP00000070846.6:p.Ser719=
ENST00000340811.9:c.2023_2024delinsTC MANE Select	ENSP00000342800.5:p.Ser675=
ENST00000070846.10:c.2155_2156delinsTC	ENSP00000070846.6:p.Ser719=
ENST00000340811.8:c.2023_2024delinsTC	ENSP00000342800.4:p.Ser675=
ENST00000549461.1:n.469_470delinsTC
ENST00000613243.1:c.2155_2156delinsTC	ENSP00000478295.1:p.Ser719=
NM_001005242.2:c.2023_2024delinsTC	NP_001005242.2:p.Ser675=
NM_004572.3:c.2155_2156delinsTC , LRG_398t1:c.2155_2156delinsTC	NP_004563.2:p.Ser719=
NM_001005242.3:c.2023_2024delinsTC MANE Select	NP_001005242.2:p.Ser675=
NM_004572.4:c.2155_2156delinsTC	NP_004563.2:p.Ser719=