Canonical Allele Identifier: CA384359187

Gene: PKP2

Linked Data

• gnomAD v4: 12-32802410-A-C
• MyVariant Identifiers: chr12:g.32955344A>C (hg19) ; chr12:g.32802410A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802410A>C , CM000674.2:g.32802410A>C	GRCh38
NC_000012.11:g.32955344A>C , CM000674.1:g.32955344A>C	GRCh37
NC_000012.10:g.32846611A>C	NCBI36
NG_009000.1:g.99437T>G , LRG_398:g.99437T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.663T>G
ENST00000700557.2:n.252T>G
ENST00000700559.2:c.2160T>G	ENSP00000515065.2:p.Asn720Lys
ENST00000546498.2:n.847T>G
ENST00000549461.2:n.659+40T>G
ENST00000700555.1:c.591T>G	ENSP00000515062.1:p.Asn197Lys
ENST00000700556.1:c.631T>G
ENST00000700557.1:c.171T>G	ENSP00000515064.1:p.Asn57Lys
ENST00000700558.1:n.374T>G
ENST00000700559.1:c.1375T>G
ENST00000700560.1:n.1375T>G
ENST00000700561.1:n.1501T>G
ENST00000070846.11:c.2292T>G	ENSP00000070846.6:p.Asn764Lys
ENST00000340811.9:c.2160T>G MANE Select	ENSP00000342800.5:p.Asn720Lys
ENST00000070846.10:c.2292T>G	ENSP00000070846.6:p.Asn764Lys
ENST00000340811.8:c.2160T>G	ENSP00000342800.4:p.Asn720Lys
ENST00000613243.1:c.2292T>G	ENSP00000478295.1:p.Asn764Lys
NM_001005242.2:c.2160T>G	NP_001005242.2:p.Asn720Lys
NM_004572.3:c.2292T>G , LRG_398t1:c.2292T>G	NP_004563.2:p.Asn764Lys
NM_001005242.3:c.2160T>G MANE Select	NP_001005242.2:p.Asn720Lys
NM_004572.4:c.2292T>G	NP_004563.2:p.Asn764Lys