Canonical Allele Identifier: CA2618223008

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796423-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796423_32796424insAA , CM000674.2:g.32796423_32796424insAA	GRCh38
NC_000012.11:g.32949357_32949358insAA , CM000674.1:g.32949357_32949358insAA	GRCh37
NC_000012.10:g.32840624_32840625insAA	NCBI36
NG_009000.1:g.105423_105424insTT , LRG_398:g.105423_105424insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-126_671-125insTT
ENST00000700557.2:n.260-126_260-125insTT
ENST00000700559.2:c.2168-3693_2168-3692insTT	ENSP00000515065.2:n.2168-3693_2168-3692insTT
ENST00000546498.2:n.855-126_855-125insTT
ENST00000549461.2:n.660-126_660-125insTT
ENST00000700555.1:c.599-126_599-125insTT	ENSP00000515062.1:n.599-126_599-125insTT
ENST00000700556.1:c.639-126_639-125insTT
ENST00000700557.1:c.179-126_179-125insTT	ENSP00000515064.1:n.179-126_179-125insTT
ENST00000700558.1:n.382-126_382-125insTT
ENST00000700559.1:c.1383-3693_1383-3692insTT
ENST00000700560.1:n.1383-126_1383-125insTT
ENST00000700561.1:n.1509-126_1509-125insTT
ENST00000070846.11:c.2300-126_2300-125insTT	ENSP00000070846.6:n.2300-126_2300-125insTT
ENST00000340811.9:c.2168-126_2168-125insTT MANE Select	ENSP00000342800.5:n.2168-126_2168-125insTT
ENST00000070846.10:c.2300-126_2300-125insTT	ENSP00000070846.6:n.2300-126_2300-125insTT
ENST00000340811.8:c.2168-126_2168-125insTT	ENSP00000342800.4:n.2168-126_2168-125insTT
ENST00000613243.1:c.2300-126_2300-125insTT	ENSP00000478295.1:n.2300-126_2300-125insTT
NM_001005242.2:c.2168-126_2168-125insTT	NP_001005242.2:n.2168-126_2168-125insTT
NM_004572.3:c.2300-126_2300-125insTT , LRG_398t1:c.2300-126_2300-125insTT	NP_004563.2:n.2300-126_2300-125insTT
NM_001005242.3:c.2168-126_2168-125insTT MANE Select	NP_001005242.2:n.2168-126_2168-125insTT
NM_004572.4:c.2300-126_2300-125insTT	NP_004563.2:n.2300-126_2300-125insTT