Canonical Allele Identifier: CA031494

Gene: PKP2

Linked Data

• dbSNP Id: rs750738012
• ExAC: 12:32975434 T / C
• gnomAD v2: 12-32975434-T-C
• gnomAD v4: 12-32822500-T-C
• MyVariant Identifiers: chr12:g.32975434T>C (hg19) ; chr12:g.32822500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822500T>C , CM000674.2:g.32822500T>C	GRCh38
NC_000012.11:g.32975434T>C , CM000674.1:g.32975434T>C	GRCh37
NC_000012.10:g.32866701T>C	NCBI36
NG_009000.1:g.79347A>G , LRG_398:g.79347A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.318A>G
ENST00000700559.2:c.1806A>G	ENSP00000515065.2:p.Gly602=
ENST00000700563.2:c.1806A>G	ENSP00000515066.2:p.Gly602=
ENST00000546498.2:n.493A>G
ENST00000700555.1:c.246A>G	ENSP00000515062.1:p.Gly82=
ENST00000700556.1:c.277A>G
ENST00000700559.1:c.1021A>G
ENST00000700560.1:n.1021A>G
ENST00000700561.1:n.1147A>G
ENST00000700563.1:c.1760A>G
ENST00000700564.1:n.1810A>G
ENST00000070846.11:c.1938A>G	ENSP00000070846.6:p.Gly646=
ENST00000340811.9:c.1806A>G MANE Select	ENSP00000342800.5:p.Gly602=
ENST00000070846.10:c.1938A>G	ENSP00000070846.6:p.Gly646=
ENST00000340811.8:c.1806A>G	ENSP00000342800.4:p.Gly602=
ENST00000546498.1:n.493A>G
ENST00000552612.5:n.227A>G
ENST00000613243.1:c.1938A>G	ENSP00000478295.1:p.Gly646=
NM_001005242.2:c.1806A>G	NP_001005242.2:p.Gly602=
NM_004572.3:c.1938A>G , LRG_398t1:c.1938A>G	NP_004563.2:p.Gly646=
NM_001005242.3:c.1806A>G MANE Select	NP_001005242.2:p.Gly602=
NM_004572.4:c.1938A>G	NP_004563.2:p.Gly646=