Canonical Allele Identifier: CA2026361371

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796629_32796630delinsGA , CM000674.2:g.32796629_32796630delinsGA	GRCh38
NC_000012.11:g.32949563_32949564delinsGA , CM000674.1:g.32949563_32949564delinsGA	GRCh37
NC_000012.10:g.32840830_32840831delinsGA	NCBI36
NG_009000.1:g.105217_105218delinsTC , LRG_398:g.105217_105218delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-332_671-331delinsTC
ENST00000700557.2:n.260-332_260-331delinsTC
ENST00000700559.2:c.2168-3899_2168-3898delinsTC	ENSP00000515065.2:n.2168-3899_2168-3898delinsTC
ENST00000546498.2:n.855-332_855-331delinsTC
ENST00000549461.2:n.660-332_660-331delinsTC
ENST00000700555.1:c.599-332_599-331delinsTC	ENSP00000515062.1:n.599-332_599-331delinsTC
ENST00000700556.1:c.639-332_639-331delinsTC
ENST00000700557.1:c.179-332_179-331delinsTC	ENSP00000515064.1:n.179-332_179-331delinsTC
ENST00000700558.1:n.382-332_382-331delinsTC
ENST00000700559.1:c.1383-3899_1383-3898delinsTC
ENST00000700560.1:n.1383-332_1383-331delinsTC
ENST00000700561.1:n.1509-332_1509-331delinsTC
ENST00000070846.11:c.2300-332_2300-331delinsTC	ENSP00000070846.6:n.2300-332_2300-331delinsTC
ENST00000340811.9:c.2168-332_2168-331delinsTC MANE Select	ENSP00000342800.5:n.2168-332_2168-331delinsTC
ENST00000070846.10:c.2300-332_2300-331delinsTC	ENSP00000070846.6:n.2300-332_2300-331delinsTC
ENST00000340811.8:c.2168-332_2168-331delinsTC	ENSP00000342800.4:n.2168-332_2168-331delinsTC
ENST00000613243.1:c.2300-332_2300-331delinsTC	ENSP00000478295.1:n.2300-332_2300-331delinsTC
NM_001005242.2:c.2168-332_2168-331delinsTC	NP_001005242.2:n.2168-332_2168-331delinsTC
NM_004572.3:c.2300-332_2300-331delinsTC , LRG_398t1:c.2300-332_2300-331delinsTC	NP_004563.2:n.2300-332_2300-331delinsTC
NM_001005242.3:c.2168-332_2168-331delinsTC MANE Select	NP_001005242.2:n.2168-332_2168-331delinsTC
NM_004572.4:c.2300-332_2300-331delinsTC	NP_004563.2:n.2300-332_2300-331delinsTC