Canonical Allele Identifier: CA2618223136

Gene: PKP2

Linked Data

• gnomAD v4: 12-32802593-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802593T>C , CM000674.2:g.32802593T>C	GRCh38
NC_000012.11:g.32955527T>C , CM000674.1:g.32955527T>C	GRCh37
NC_000012.10:g.32846794T>C	NCBI36
NG_009000.1:g.99254A>G , LRG_398:g.99254A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.517-37A>G
ENST00000700557.2:n.106-37A>G
ENST00000700559.2:c.2014-37A>G	ENSP00000515065.2:n.2014-37A>G
ENST00000546498.2:n.701-37A>G
ENST00000549461.2:n.553-37A>G
ENST00000700555.1:c.445-37A>G	ENSP00000515062.1:n.445-37A>G
ENST00000700556.1:c.485-37A>G
ENST00000700557.1:c.25-37A>G	ENSP00000515064.1:n.25-37A>G
ENST00000700558.1:n.228-37A>G
ENST00000700559.1:c.1229-37A>G
ENST00000700560.1:n.1229-37A>G
ENST00000700561.1:n.1355-37A>G
ENST00000070846.11:c.2146-37A>G	ENSP00000070846.6:n.2146-37A>G
ENST00000340811.9:c.2014-37A>G MANE Select	ENSP00000342800.5:n.2014-37A>G
ENST00000070846.10:c.2146-37A>G	ENSP00000070846.6:n.2146-37A>G
ENST00000340811.8:c.2014-37A>G	ENSP00000342800.4:n.2014-37A>G
ENST00000549461.1:n.460-37A>G
ENST00000613243.1:c.2146-37A>G	ENSP00000478295.1:n.2146-37A>G
NM_001005242.2:c.2014-37A>G	NP_001005242.2:n.2014-37A>G
NM_004572.3:c.2146-37A>G , LRG_398t1:c.2146-37A>G	NP_004563.2:n.2146-37A>G
NM_001005242.3:c.2014-37A>G MANE Select	NP_001005242.2:n.2014-37A>G
NM_004572.4:c.2146-37A>G	NP_004563.2:n.2146-37A>G