Canonical Allele Identifier: CA384359292

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1485766
• ClinVar RCV Id: RCV002000976
• dbSNP Id: rs2137919547
• gnomAD v4: 12-32868974-T-A
• MyVariant Identifiers: chr12:g.33021908T>A (hg19) ; chr12:g.32868974T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32868974T>A , CM000674.2:g.32868974T>A	GRCh38
NC_000012.11:g.33021908T>A , CM000674.1:g.33021908T>A	GRCh37
NC_000012.10:g.32913175T>A	NCBI36
NG_009000.1:g.32873A>T , LRG_398:g.32873A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1123A>T	ENSP00000515065.2:p.Thr375Ser
ENST00000700563.2:c.1123A>T	ENSP00000515066.2:p.Thr375Ser
ENST00000700559.1:c.338A>T
ENST00000700560.1:n.338A>T
ENST00000700561.1:n.464A>T
ENST00000700563.1:c.1077A>T
ENST00000700564.1:n.1127A>T
ENST00000700565.1:n.976A>T
ENST00000070846.11:c.1123A>T	ENSP00000070846.6:p.Thr375Ser
ENST00000340811.9:c.1123A>T MANE Select	ENSP00000342800.5:p.Thr375Ser
ENST00000070846.10:c.1123A>T	ENSP00000070846.6:p.Thr375Ser
ENST00000340811.8:c.1123A>T	ENSP00000342800.4:p.Thr375Ser
ENST00000613243.1:c.1123A>T	ENSP00000478295.1:p.Thr375Ser
NM_001005242.2:c.1123A>T	NP_001005242.2:p.Thr375Ser
NM_004572.3:c.1123A>T , LRG_398t1:c.1123A>T	NP_004563.2:p.Thr375Ser
NM_001005242.3:c.1123A>T MANE Select	NP_001005242.2:p.Thr375Ser
NM_004572.4:c.1123A>T	NP_004563.2:p.Thr375Ser