Canonical Allele Identifier: CA2618225692

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2769893
• ClinVar RCV Id: RCV003507907
• gnomAD v4: 12-32824027-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824027A>G , CM000674.2:g.32824027A>G	GRCh38
NC_000012.11:g.32976961A>G , CM000674.1:g.32976961A>G	GRCh37
NC_000012.10:g.32868228A>G	NCBI36
NG_009000.1:g.77820T>C , LRG_398:g.77820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.186+18T>C
ENST00000700559.2:c.1674+18T>C	ENSP00000515065.2:n.1674+18T>C
ENST00000700563.2:c.1674+18T>C	ENSP00000515066.2:n.1674+18T>C
ENST00000546498.2:n.361+18T>C
ENST00000700555.1:c.114+18T>C	ENSP00000515062.1:n.114+18T>C
ENST00000700556.1:c.145+18T>C
ENST00000700559.1:c.889+18T>C
ENST00000700560.1:n.889+18T>C
ENST00000700561.1:n.1015+18T>C
ENST00000700563.1:c.1628+18T>C
ENST00000700564.1:n.1678+18T>C
ENST00000070846.11:c.1806+18T>C	ENSP00000070846.6:n.1806+18T>C
ENST00000340811.9:c.1674+18T>C MANE Select	ENSP00000342800.5:n.1674+18T>C
ENST00000070846.10:c.1806+18T>C	ENSP00000070846.6:n.1806+18T>C
ENST00000340811.8:c.1674+18T>C	ENSP00000342800.4:n.1674+18T>C
ENST00000546498.1:n.361+18T>C
ENST00000552612.5:n.95+18T>C
ENST00000613243.1:c.1806+18T>C	ENSP00000478295.1:n.1806+18T>C
NM_001005242.2:c.1674+18T>C	NP_001005242.2:n.1674+18T>C
NM_004572.3:c.1806+18T>C , LRG_398t1:c.1806+18T>C	NP_004563.2:n.1806+18T>C
NM_001005242.3:c.1674+18T>C MANE Select	NP_001005242.2:n.1674+18T>C
NM_004572.4:c.1806+18T>C	NP_004563.2:n.1806+18T>C