Canonical Allele Identifier: CA012585

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45090
• ClinVar RCV Id: RCV000038231 ; RCV000471504 ; RCV001190170 ; RCV003390730 ; RCV003996390
• dbSNP Id: rs61729382
• ExAC: 12:33030863 C / T
• gnomAD v2: 12-33030863-C-T
• gnomAD v3: 12-32877929-C-T
• gnomAD v4: 12-32877929-C-T
• MyVariant Identifiers: chr12:g.33030863C>T (hg19) ; chr12:g.32877929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32877929C>T , CM000674.2:g.32877929C>T	GRCh38
NC_000012.11:g.33030863C>T , CM000674.1:g.33030863C>T	GRCh37
NC_000012.10:g.32922130C>T	NCBI36
NG_009000.1:g.23918G>A , LRG_398:g.23918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.951G>A	ENSP00000515065.2:p.Ala317=
ENST00000700563.2:c.951G>A	ENSP00000515066.2:p.Ala317=
ENST00000700559.1:c.166G>A
ENST00000700560.1:n.166G>A
ENST00000700561.1:n.292G>A
ENST00000700563.1:c.905G>A
ENST00000700564.1:n.955G>A
ENST00000700565.1:n.804G>A
ENST00000070846.11:c.951G>A	ENSP00000070846.6:p.Ala317=
ENST00000340811.9:c.951G>A MANE Select	ENSP00000342800.5:p.Ala317=
ENST00000070846.10:c.951G>A	ENSP00000070846.6:p.Ala317=
ENST00000340811.8:c.951G>A	ENSP00000342800.4:p.Ala317=
ENST00000613243.1:c.951G>A	ENSP00000478295.1:p.Ala317=
NM_001005242.2:c.951G>A	NP_001005242.2:p.Ala317=
NM_004572.3:c.951G>A , LRG_398t1:c.951G>A	NP_004563.2:p.Ala317=
NM_001005242.3:c.951G>A MANE Select	NP_001005242.2:p.Ala317=
NM_004572.4:c.951G>A	NP_004563.2:p.Ala317=