Canonical Allele Identifier: CA384363082

Gene: PKP2

Linked Data

• gnomAD v4: 12-32822541-G-T
• MyVariant Identifiers: chr12:g.32975475G>T (hg19) ; chr12:g.32822541G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822541G>T , CM000674.2:g.32822541G>T	GRCh38
NC_000012.11:g.32975475G>T , CM000674.1:g.32975475G>T	GRCh37
NC_000012.10:g.32866742G>T	NCBI36
NG_009000.1:g.79306C>A , LRG_398:g.79306C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.277C>A
ENST00000700559.2:c.1765C>A	ENSP00000515065.2:p.Gln589Lys
ENST00000700563.2:c.1765C>A	ENSP00000515066.2:p.Gln589Lys
ENST00000546498.2:n.452C>A
ENST00000700555.1:c.205C>A	ENSP00000515062.1:p.Gln69Lys
ENST00000700556.1:c.236C>A
ENST00000700559.1:c.980C>A
ENST00000700560.1:n.980C>A
ENST00000700561.1:n.1106C>A
ENST00000700563.1:c.1719C>A
ENST00000700564.1:n.1769C>A
ENST00000070846.11:c.1897C>A	ENSP00000070846.6:p.Gln633Lys
ENST00000340811.9:c.1765C>A MANE Select	ENSP00000342800.5:p.Gln589Lys
ENST00000070846.10:c.1897C>A	ENSP00000070846.6:p.Gln633Lys
ENST00000340811.8:c.1765C>A	ENSP00000342800.4:p.Gln589Lys
ENST00000546498.1:n.452C>A
ENST00000552612.5:n.186C>A
ENST00000613243.1:c.1897C>A	ENSP00000478295.1:p.Gln633Lys
NM_001005242.2:c.1765C>A	NP_001005242.2:p.Gln589Lys
NM_004572.3:c.1897C>A , LRG_398t1:c.1897C>A	NP_004563.2:p.Gln633Lys
NM_001005242.3:c.1765C>A MANE Select	NP_001005242.2:p.Gln589Lys
NM_004572.4:c.1897C>A	NP_004563.2:p.Gln633Lys