Canonical Allele Identifier: CA235218145

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1615371
• ClinVar RCV Id: RCV002081420 ; RCV003161551
• dbSNP Id: rs1032835001
• gnomAD v4: 12-32796285-G-A
• MyVariant Identifiers: chr12:g.32949219G>A (hg19) ; chr12:g.32796285G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796285G>A , CM000674.2:g.32796285G>A	GRCh38
NC_000012.11:g.32949219G>A , CM000674.1:g.32949219G>A	GRCh37
NC_000012.10:g.32840486G>A	NCBI36
NG_009000.1:g.105562C>T , LRG_398:g.105562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.684C>T
ENST00000700557.2:n.273C>T
ENST00000700559.2:c.2168-3554C>T	ENSP00000515065.2:n.2168-3554C>T
ENST00000546498.2:n.868C>T
ENST00000549461.2:n.673C>T
ENST00000700555.1:c.612C>T	ENSP00000515062.1:p.Leu204=
ENST00000700556.1:c.652C>T
ENST00000700557.1:c.192C>T	ENSP00000515064.1:p.Leu64=
ENST00000700558.1:n.395C>T
ENST00000700559.1:c.1383-3554C>T
ENST00000700560.1:n.1396C>T
ENST00000700561.1:n.1522C>T
ENST00000070846.11:c.2313C>T	ENSP00000070846.6:p.Leu771=
ENST00000340811.9:c.2181C>T MANE Select	ENSP00000342800.5:p.Leu727=
ENST00000070846.10:c.2313C>T	ENSP00000070846.6:p.Leu771=
ENST00000340811.8:c.2181C>T	ENSP00000342800.4:p.Leu727=
ENST00000613243.1:c.2313C>T	ENSP00000478295.1:p.Leu771=
NM_001005242.2:c.2181C>T	NP_001005242.2:p.Leu727=
NM_004572.3:c.2313C>T , LRG_398t1:c.2313C>T	NP_004563.2:p.Leu771=
NM_001005242.3:c.2181C>T MANE Select	NP_001005242.2:p.Leu727=
NM_004572.4:c.2313C>T	NP_004563.2:p.Leu771=