Canonical Allele Identifier: CA034731

Gene: PKP2

Linked Data

• dbSNP Id: rs754446972
• ExAC: 12:33031960 A / T
• gnomAD v2: 12-33031960-A-T
• MyVariant Identifiers: chr12:g.33031960A>T (hg19) ; chr12:g.32879026A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879026A>T , CM000674.2:g.32879026A>T	GRCh38
NC_000012.11:g.33031960A>T , CM000674.1:g.33031960A>T	GRCh37
NC_000012.10:g.32923227A>T	NCBI36
NG_009000.1:g.22821T>A , LRG_398:g.22821T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.230T>A	ENSP00000515065.2:p.Leu77His
ENST00000700563.2:c.230T>A	ENSP00000515066.2:p.Leu77His
ENST00000700563.1:c.184T>A
ENST00000700564.1:n.234T>A
ENST00000700565.1:n.83T>A
ENST00000070846.11:c.230T>A	ENSP00000070846.6:p.Leu77His
ENST00000340811.9:c.230T>A MANE Select	ENSP00000342800.5:p.Leu77His
ENST00000070846.10:c.230T>A	ENSP00000070846.6:p.Leu77His
ENST00000340811.8:c.230T>A	ENSP00000342800.4:p.Leu77His
ENST00000613243.1:c.230T>A	ENSP00000478295.1:p.Leu77His
NM_001005242.2:c.230T>A	NP_001005242.2:p.Leu77His
NM_004572.3:c.230T>A , LRG_398t1:c.230T>A	NP_004563.2:p.Leu77His
NM_001005242.3:c.230T>A MANE Select	NP_001005242.2:p.Leu77His
NM_004572.4:c.230T>A	NP_004563.2:p.Leu77His