Canonical Allele Identifier: CA031585

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1047065
• ClinVar RCV Id: RCV001351729 ; RCV002420764 ; RCV004005244
• dbSNP Id: rs763648594
• ExAC: 12:32975420 C / T
• gnomAD v2: 12-32975420-C-T
• gnomAD v3: 12-32822486-C-T
• gnomAD v4: 12-32822486-C-T
• MyVariant Identifiers: chr12:g.32975420C>T (hg19) ; chr12:g.32822486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822486C>T , CM000674.2:g.32822486C>T	GRCh38
NC_000012.11:g.32975420C>T , CM000674.1:g.32975420C>T	GRCh37
NC_000012.10:g.32866687C>T	NCBI36
NG_009000.1:g.79361G>A , LRG_398:g.79361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.332G>A
ENST00000700559.2:c.1820G>A	ENSP00000515065.2:p.Arg607Gln
ENST00000700563.2:c.1820G>A	ENSP00000515066.2:p.Arg607Gln
ENST00000546498.2:n.507G>A
ENST00000700555.1:c.260G>A	ENSP00000515062.1:p.Arg87Gln
ENST00000700556.1:c.291G>A
ENST00000700559.1:c.1035G>A
ENST00000700560.1:n.1035G>A
ENST00000700561.1:n.1161G>A
ENST00000700563.1:c.1774G>A
ENST00000700564.1:n.1824G>A
ENST00000070846.11:c.1952G>A	ENSP00000070846.6:p.Arg651Gln
ENST00000340811.9:c.1820G>A MANE Select	ENSP00000342800.5:p.Arg607Gln
ENST00000070846.10:c.1952G>A	ENSP00000070846.6:p.Arg651Gln
ENST00000340811.8:c.1820G>A	ENSP00000342800.4:p.Arg607Gln
ENST00000546498.1:n.507G>A
ENST00000552612.5:n.241G>A
ENST00000613243.1:c.1952G>A	ENSP00000478295.1:p.Arg651Gln
NM_001005242.2:c.1820G>A	NP_001005242.2:p.Arg607Gln
NM_004572.3:c.1952G>A , LRG_398t1:c.1952G>A	NP_004563.2:p.Arg651Gln
NM_001005242.3:c.1820G>A MANE Select	NP_001005242.2:p.Arg607Gln
NM_004572.4:c.1952G>A	NP_004563.2:p.Arg651Gln