Canonical Allele Identifier: CA2618222927

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796307-T-TAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796307_32796308insAAAA , CM000674.2:g.32796307_32796308insAAAA	GRCh38
NC_000012.11:g.32949241_32949242insAAAA , CM000674.1:g.32949241_32949242insAAAA	GRCh37
NC_000012.10:g.32840508_32840509insAAAA	NCBI36
NG_009000.1:g.105539_105540insTTTT , LRG_398:g.105539_105540insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-10_671-9insTTTT
ENST00000700557.2:n.260-10_260-9insTTTT
ENST00000700559.2:c.2168-3577_2168-3576insTTTT	ENSP00000515065.2:n.2168-3577_2168-3576insTTTT
ENST00000546498.2:n.855-10_855-9insTTTT
ENST00000549461.2:n.660-10_660-9insTTTT
ENST00000700555.1:c.599-10_599-9insTTTT	ENSP00000515062.1:n.599-10_599-9insTTTT
ENST00000700556.1:c.639-10_639-9insTTTT
ENST00000700557.1:c.179-10_179-9insTTTT	ENSP00000515064.1:n.179-10_179-9insTTTT
ENST00000700558.1:n.382-10_382-9insTTTT
ENST00000700559.1:c.1383-3577_1383-3576insTTTT
ENST00000700560.1:n.1383-10_1383-9insTTTT
ENST00000700561.1:n.1509-10_1509-9insTTTT
ENST00000070846.11:c.2300-10_2300-9insTTTT	ENSP00000070846.6:n.2300-10_2300-9insTTTT
ENST00000340811.9:c.2168-10_2168-9insTTTT MANE Select	ENSP00000342800.5:n.2168-10_2168-9insTTTT
ENST00000070846.10:c.2300-10_2300-9insTTTT	ENSP00000070846.6:n.2300-10_2300-9insTTTT
ENST00000340811.8:c.2168-10_2168-9insTTTT	ENSP00000342800.4:n.2168-10_2168-9insTTTT
ENST00000613243.1:c.2300-10_2300-9insTTTT	ENSP00000478295.1:n.2300-10_2300-9insTTTT
NM_001005242.2:c.2168-10_2168-9insTTTT	NP_001005242.2:n.2168-10_2168-9insTTTT
NM_004572.3:c.2300-10_2300-9insTTTT , LRG_398t1:c.2300-10_2300-9insTTTT	NP_004563.2:n.2300-10_2300-9insTTTT
NM_001005242.3:c.2168-10_2168-9insTTTT MANE Select	NP_001005242.2:n.2168-10_2168-9insTTTT
NM_004572.4:c.2300-10_2300-9insTTTT	NP_004563.2:n.2300-10_2300-9insTTTT