Canonical Allele Identifier: CA479176565

Gene: PKP2

Linked Data

• ClinVar Variation Id: 450145
• ClinVar RCV Id: RCV000518880 ; RCV002490910
• dbSNP Id: rs1555143127
• gnomAD v4: 12-32824075-T-A
• MyVariant Identifiers: chr12:g.32977009T>A (hg19) ; chr12:g.32824075T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824075T>A , CM000674.2:g.32824075T>A	GRCh38
NC_000012.11:g.32977009T>A , CM000674.1:g.32977009T>A	GRCh37
NC_000012.10:g.32868276T>A	NCBI36
NG_009000.1:g.77772A>T , LRG_398:g.77772A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.156A>T
ENST00000700559.2:c.1644A>T	ENSP00000515065.2:p.Gly548=
ENST00000700563.2:c.1644A>T	ENSP00000515066.2:p.Gly548=
ENST00000546498.2:n.331A>T
ENST00000700555.1:c.84A>T	ENSP00000515062.1:p.Gly28=
ENST00000700556.1:c.115A>T
ENST00000700559.1:c.859A>T
ENST00000700560.1:n.859A>T
ENST00000700561.1:n.985A>T
ENST00000700563.1:c.1598A>T
ENST00000700564.1:n.1648A>T
ENST00000070846.11:c.1776A>T	ENSP00000070846.6:p.Gly592=
ENST00000340811.9:c.1644A>T MANE Select	ENSP00000342800.5:p.Gly548=
ENST00000070846.10:c.1776A>T	ENSP00000070846.6:p.Gly592=
ENST00000340811.8:c.1644A>T	ENSP00000342800.4:p.Gly548=
ENST00000546498.1:n.331A>T
ENST00000552612.5:n.65A>T
ENST00000613243.1:c.1776A>T	ENSP00000478295.1:p.Gly592=
NM_001005242.2:c.1644A>T	NP_001005242.2:p.Gly548=
NM_004572.3:c.1776A>T , LRG_398t1:c.1776A>T	NP_004563.2:p.Gly592=
NM_001005242.3:c.1644A>T MANE Select	NP_001005242.2:p.Gly548=
NM_004572.4:c.1776A>T	NP_004563.2:p.Gly592=