Canonical Allele Identifier: CA011564

Gene: PKP2

Linked Data

• ClinVar Variation Id: 164956
• ClinVar RCV Id: RCV000151653 ; RCV001177586 ; RCV002483312
• dbSNP Id: rs727503370
• ExAC: 12:32975446 G / T
• gnomAD v2: 12-32975446-G-T
• gnomAD v3: 12-32822512-G-T
• gnomAD v4: 12-32822512-G-T
• MyVariant Identifiers: chr12:g.32975446G>T (hg19) ; chr12:g.32822512G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822512G>T , CM000674.2:g.32822512G>T	GRCh38
NC_000012.11:g.32975446G>T , CM000674.1:g.32975446G>T	GRCh37
NC_000012.10:g.32866713G>T	NCBI36
NG_009000.1:g.79335C>A , LRG_398:g.79335C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.306C>A
ENST00000700559.2:c.1794C>A	ENSP00000515065.2:p.Asn598Lys
ENST00000700563.2:c.1794C>A	ENSP00000515066.2:p.Asn598Lys
ENST00000546498.2:n.481C>A
ENST00000700555.1:c.234C>A	ENSP00000515062.1:p.Asn78Lys
ENST00000700556.1:c.265C>A
ENST00000700559.1:c.1009C>A
ENST00000700560.1:n.1009C>A
ENST00000700561.1:n.1135C>A
ENST00000700563.1:c.1748C>A
ENST00000700564.1:n.1798C>A
ENST00000070846.11:c.1926C>A	ENSP00000070846.6:p.Asn642Lys
ENST00000340811.9:c.1794C>A MANE Select	ENSP00000342800.5:p.Asn598Lys
ENST00000070846.10:c.1926C>A	ENSP00000070846.6:p.Asn642Lys
ENST00000340811.8:c.1794C>A	ENSP00000342800.4:p.Asn598Lys
ENST00000546498.1:n.481C>A
ENST00000552612.5:n.215C>A
ENST00000613243.1:c.1926C>A	ENSP00000478295.1:p.Asn642Lys
NM_001005242.2:c.1794C>A	NP_001005242.2:p.Asn598Lys
NM_004572.3:c.1926C>A , LRG_398t1:c.1926C>A	NP_004563.2:p.Asn642Lys
NM_001005242.3:c.1794C>A MANE Select	NP_001005242.2:p.Asn598Lys
NM_004572.4:c.1926C>A	NP_004563.2:p.Asn642Lys