Canonical Allele Identifier: CA2618222931

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796308-G-GAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796318_32796319insAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.2:g.32796318_32796319insAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000012.11:g.32949252_32949253insAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.1:g.32949252_32949253insAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000012.10:g.32840519_32840520insAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_009000.1:g.105538_105539insTTTTTTTTTTTTTTTTTTTTTTTT , LRG_398:g.105538_105539insTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-11_671-10insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700557.2:n.260-11_260-10insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700559.2:c.2168-3578_2168-3577insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000515065.2:n.2168-3578_2168-3577insTTTTTTTTTTTTTTTTTTT...
ENST00000546498.2:n.855-11_855-10insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000549461.2:n.660-11_660-10insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700555.1:c.599-11_599-10insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000515062.1:n.599-11_599-10insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700556.1:c.639-11_639-10insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700557.1:c.179-11_179-10insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000515064.1:n.179-11_179-10insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700558.1:n.382-11_382-10insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700559.1:c.1383-3578_1383-3577insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700560.1:n.1383-11_1383-10insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000700561.1:n.1509-11_1509-10insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000070846.11:c.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000070846.6:n.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000340811.9:c.2168-11_2168-10insTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000342800.5:n.2168-11_2168-10insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000070846.10:c.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000070846.6:n.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000340811.8:c.2168-11_2168-10insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000342800.4:n.2168-11_2168-10insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000613243.1:c.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000478295.1:n.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTT...
NM_001005242.2:c.2168-11_2168-10insTTTTTTTTTTTTTTTTTTTTTTTT	NP_001005242.2:n.2168-11_2168-10insTTTTTTTTTTTTTTTTTTTTTTTT
NM_004572.3:c.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTTT , LRG_398t1:c.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTTT	NP_004563.2:n.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTTT
NM_001005242.3:c.2168-11_2168-10insTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_001005242.2:n.2168-11_2168-10insTTTTTTTTTTTTTTTTTTTTTTTT
NM_004572.4:c.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTTT	NP_004563.2:n.2300-11_2300-10insTTTTTTTTTTTTTTTTTTTTTTTT